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Purpose To analyze and describe serial follow-up of choriocapillaris alterations in tubercular serpiginouslike choroiditis (SLC) using optical coherence tomography angiography (OCTA) and to compare it with multimodal imaging. Methods In this prospective cohort study, patients with active tubercular SLC underwent OCTA using Optovue RTVue XR Avanti and other imaging techniques including enhanced-depth imaging OCT (EDI-OCT) (Heidelberg Spectralis; Heidelberg Engineering, Heidelberg, Germany), fundus autofluorescence, fluorescein angiography, and indocyanine green angiography. Serial imaging was performed for a total follow-up of 3 months. Choriocapillaris alterations at the site of lesions were analyzed on OCTA imaging, and their mean lesion areas were calculated. Results Twenty-six eyes (26 patients; 20 males; mean age: 32.68 ± 10.56 years) were included. Fourteen eyes had active multifocal lesions (n = 39), whereas 12 eyes had active placoid lesions (n = 12). At baseline, OCTA showed hyporeflective flow deficit lesions corresponding to the hypofluorescent lesions on indocyanine green angiography in all eyes. In the multifocal type of SLC, the mean lesion area decreased in all eyes compared with baseline, and lesions with a lesion area less than 0.1 mm2 on OCTA showed near-complete resolution with minimal choriocapillaris atrophy. In comparison, all eyes with a placoid type of SLC showed no significant reduction in the lesion area and showed extensive choriocapillaris atrophy. Conclusion Optical coherence tomography angiography has the unique ability to demonstrate pathological flow impairment at the level of choriocapillaris in active tubercular SLC. Serial OCTA analysis reveals that large tubercular SLC lesions result in choriocapillaris atrophy as the lesions heal, whereas smaller multifocal lesions show resolution of choriocapillaris hypoperfusion with minimal atrophy.

Background Bietti crystalline dystrophy (BCD) is an autosomal recessive genetic disorder that causes progressive vision loss. Here, 12 patients were followed up for 1–5 years with fundus fluorescein angiography (FFA) to observe BCD disease progression. Methods FFA images were collected for 12 patients with BCD who visited our clinic twice or more over a 5-year period. Peripheral venous blood was collected to identify the pathogenic gene related to the clinical phenotype. Results We observed two types in FFA images of patients with BCD. Type 1 showed retinal pigment epithelium (RPE) atrophy in the macular area, followed by choriocapillaris atrophy and the subsequent appearance of RPE atrophy appeared at the peripheral retina. Type 2 showed RPE atrophy at the posterior pole and peripheral retina, followed by choriocapillaris atrophy around the macula and along the superior and inferior vascular arcades and the nasal side of the optic disc. The posterior and peripheral lesions of both type 1 and type 2 BCD subsequently extended to the mid-periphery; finally, all the RPEs and choriocapillaris atrophied, exposing the choroid great vessels, but type 2 macular RPE atrophy could last longer. Conclusions The characterization of two different types of BCD development provides a better understanding of the phenotype and the progression of the disease for a precise prognosis and prediction of pathogenesis.

Introduction. We present a case of serpiginous choroidopathy (SC) with novel OCTA and en face OCT reflectance findings which help identify subclinical disease progression. Case Presentation. En face OCT reflectance images demonstrated outer retinal tubules (ORT) at the serpiginous lesion margins of affected and unaffected retina on multimodal imaging. OCTA findings demonstrate variable dropout of choriocapillaris in “normal” retina beyond lesion borders which was not visible on standard imaging and which demonstrated a clear transition zone beyond the ORT. Discussion. This is the first report of choriocapillaris atrophy identified on OCTA not identified on traditional multimodal imaging in serpiginous choroidopathy. Damage to vasculature only visible with OCTA may help characterize the distribution of inflammation, aiding in monitoring of suppression not illustrated by traditional imaging and which may threaten the central macula. ORT in SC suggest death and reorganization of outer segments from dysfunction of the choriocapillaris and RPE, as well as serve to demarcate the area of chronic or old inflammation, supporting the hypothesis that the choriocapillaris is the primary site of inflammation in SC. Based on these findings, we recommend OCTA on all patients with serpiginous choroidopathy to monitor underlying state of inflammation and help determine immunosuppressive threshold.

This report describes the first case of extensive macular atrophy with pseudodrusen (EMAP) imaged with optical coherence tomography angiography (OCTA). A 58-year-old Caucasian man presented with decreased central vision in both eyes. Fundus examination showed large areas of macular atrophy centered on the fovea surrounded by diffuse reticular pseudodrusen. Spectral domain OCT (SDOCT) revealed outer retinal and choriocapillaris atrophy. OCTA demonstrated marked absence of choriocapillaris flow. Extensive macular atrophy with pseudodrusen is a rare clinical entity and a new extreme phenotype of macular degenerations that could shed more light on the role of pseudodrusen and choriocapillaris compromise in the pathogenesis of AMD.

Purpose To evaluate the vitreal, retinal, and choroidal features using spectral domain optical coherence tomography (SD-OCT) in eyes affected by cytomegalovirus (CMV) retinitis. Methods Patients diagnosed with either active or inactive CMV retinitis were included in the study. Complete ophthalmic examination, serial color fundus photography, and SD-OCT (with and without enhanced depth imaging function) were performed for all the subjects at baseline and follow-up visits. The SD-OCT images were analyzed by two independent graders to evaluate the structural changes in areas of CMV retinitis. Prevalence data for vitreal, retinal, and choroidal SD-OCT features were collected. Results Twelve eyes from 9 patients (6 males, mean age: 52.7 ± 10.3 years) were enrolled. Nine eyes were diagnosed with active CMV retinitis at baseline. Active disease SD-OCT characteristic findings included nebulous vitritis (100%), posterior hyaloid thickening (83.3%), epiretinal membrane (100%), and retinal swelling (100%). Two distinct patterns of chorioretinal involvement were observed in active retinitis: 1) full-thickness retinitis (Full thickness retinitis) (n = 7 eyes) with choriocapillaris alterations and retinal pigment epithelial thickening and 2) cavernous retinitis (n = 3 eyes) characterized by inner retinal hyperreflectivity, large empty spaces in outer nuclear layer, and bridges of retinal tissue but retinal pigment epithelium and choriocapillaris sparing. Patients with cavernous retinitis develop retinal detachment during follow-up. Eyes with Full thickness retinitis developed choriocapillaris atrophy and choroidal thinning and retinal scars as the lesions healed. Conclusion There are two distinct patterns of chorioretinal involvement in CMV retinitis. SD-OCT is a useful tool in the diagnosis, management, and prediction of the outcome of CMV retinitis.

A 44-year-old female patient without any known systemic or ocular disease presented with progressive visual loss and night vision disturbance. Visual acuity was 0.6 in the right eye and 0.2 in the left eye. Tiny, yellow crystalline deposits were seen on fundus examination. In addition, areas of retinal pigment epithelium and choriocapillaris atrophy were detected. Rod and cone responses were depressed in full-field flash electroretinogram. Multifocal electroretinogram testing showed severe foveal function disturbance with less severe but still depressed responses toward the periphery. Multiple hyperreflective lesions were detected in the retina in optical coherence tomography. We aimed to present the role of ocular electrophysiology by comparing the patient's signs and symptoms with her ocular electrophysiological test results.

Purpose To evaluate the fractal dimension (Df ) of the choroidal vasculature using widefield indocyanine green (ICG) angiography and correlate it with the stage of age-related macular degeneration (AMD). Methods Widefield ICG angiography performed on 38 eyes was retrospectively analyzed using the FracLac application within the National Institutes of Health ImageJ software to determine regional fractal dimensions in the macular field and widefield. These values were then associated with a diagnosis of no AMD, non-exudative AMD (subdivided into early/intermediate stage vs. advanced stage), or exudative AMD (subdivided into with or without geographic atrophy). The mean values were compared using Wilcoxon's test. Results Early/intermediate non-exudative AMD and exudative AMD without geographic atrophy were found to have statistically significantly lower Df values compared to an absence of AMD when examining the macular field. Exudative AMD with geographic atrophy was found to have a statistically significant lower choroidal fractal dimension compared to no AMD when studied in the widefield. Conclusions Advanced stages of macular degeneration were found to have significantly decreased the fractal dimensions of choroidal vasculature on widefield ICG compared to early/intermediate stages, possibly implying a generalized reduction in complexity and/or vessel caliber of the choroid with advancing stage of AMD. This finding agrees with previous understanding of the development of choriocapillaris atrophy in advanced macular degeneration. Translational Relevance These findings suggest that using automated fractal analysis techniques can aid in differentiating stages of macular degeneration and, with further study, may be used to predict advancement of macular degeneration.

BACKGROUND AND OBJECTIVE: To demonstrate a vascular pattern seen on optical coherence tomography angiography (OCTA) that appears to correlate with reduced rates of geographic atrophy (GA) in eyes receiving long-term anti-vascular endothelial growth factor (VEGF) treatment for neovascular age-related macular degeneration (AMD). PATIENTS AND METHODS: Non-consecutive, retrospective cohort study. Patients were included if they had received more than 50 anti-VEGF injections during a period of at least 4 years for neovascular AMD in at least one eye, with absence or minimal progression of GA. Clinical charts and imaging were reviewed retrospectively; study eyes underwent OCTA. RESULTS: Nine eyes of eight patients were included. Mean age was 82 years, and mean follow-up of study eyes 9.1 years; study eyes received a mean of 65.8 injections. OCTA revealed tangled networks of neovessels associated with type 1 lesions. CONCLUSION: With prolonged anti-VEGF treatment, GA appears to occur less commonly in eyes with type 1 neovascularization. OCTA shows mature tangled vessels with substantial flow within type 1 lesions. Mature, tangled networks may be associated with a decreased likelihood of developing GA despite the presence of choriocapillaris atrophy. [ Ophthalmic Surg Lasers Imaging Retina . 2015;46:907–912.]

PURPOSE To assess choroidal vascular changes among patients with tubercular multifocal serpiginoid choroiditis (TB MSC) using previously validated techniques. METHODS Patients with TB MSC (n = 18) and healthy controls (n = 30) underwent enhanced-depth imaging optical coherence tomography (EDI-OCT) imaging. Using previously validated algorithm of image binarization, EDI-OCT scans were segmented to derive total choroidal area, luminal area, stromal area, and choroidal vascularity index (CVI). RESULTS There was a statistically significant difference in the CVI between controls (66.90 ± 1.77%) and TB MSC patients (65.46 ± 2.53%; p

Twenty-five patients with central serous pigment epitheliopathy (CSP), also known as central serous chorioretinopathy, have been observed. to have inferior hemispheric retinal pigment epithelial atrophic tracts, presumptive of -antecedent retinal detachments. Five of these patients were noted to have clinically discernible, dependent peripheral retinal detachments. The clinical and fluorescein angiographic features of these patients are reviewed. Alterations in the retina, the retinal pigment epithelium (RPE) and the choroid are also described. They include the commonly associated manifestations of CSP such as RPE leaks and macular detachment as well as some newly recognized disturbances such as retinal capillary dilatation (telangiectasia), retinal capillary leakage, retinal lipid deposition, cystoid macular edema, choriocapillaris atrophy, choroidal neovascularization and disciform scarring.

BACKGROUND: Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease) is an autosomal dominant vascular disorder characterized by severe and recurrent nosebleeds, muco-cutaneous telangiectasias, and, in some cases, life-threatening visceral arteriovenous malformations. Ocular abnormalities include conjunctival telangiectasia, arteriovenous fistula, angiectasia, phlebectasia, and angioma. MATERIAL AND METHODS: We describe the ocular abnormalities in 8 patients from a pedigree with hereditary hemorrhagic telangiectasia. This article also reviews and discusses the relevant literature. RESULTS: Five patients (62.5%) had conjunctival telangiectasias and 3 (37.5%) retinal abnormalities, consisting mainly of choriocapillaris atrophy. CONCLUSIONS: To the best of our knowledge, this is the first report describing the occurrence of choriocapillaris atrophy in patients affected by hereditary hemorrhagic telangiectasia and belonging to the same pedigree.

Fluorescein angiographic findings in 7 carriers and 7 homozygotes of a recessively inherited disease, generalized progressive retinal atrophy of the poodle, are described in detail and comparisons with 24 healthy control poodles are presented. Two angiographic types of the disease could be distinguished. These are: Type 1, a diffuse, widespread choriocapillaris atrophy associated with retinal vascular and depigmentation changes and Type 2, a predominantly retinal involvement combined with focal choroidal atrophic patches lineating major vessels. These findings share similarities with the observations made of the human disease, retinitis pigmentosa. Unaffected carriers of the disease showed characteristic fundus changes in angiography: patchy, hyperfluorescent depigmentation changes and often minor narrowing and irregularities of the arterioles and poorly visible capillary bed.

Background: Crystalline retinopathy is an infrequently encountered disorder characterized by reflective retinal crystalline deposits. The clinical findings of seven patients with crystalline retinopathy are documented. Methods: Clinical features of crystalline retinopathy were studied retrospectively in seven patients, three of whom were followed up for 2 to 5 years. Results: Six patients had a similar fundus appearance, that is, the reflective yellow deposits located mainly in the deep retina with retinal pigment epithelium atrophy throughout the posterior pole and midperipheral retina and with choriocapillaris atrophy at the posterior pole. However, the results from electroretinogram responses were markedly variable. Two of the patients showed marked electroretinogram functional impairment. In addition, other sibling patients only 3 years apart in age had different degrees of disease expression. Conclusion: There is considerable variability in functional manifestations among patients with crystalline retinopathy, even in intrafamilial cases.

Purpose: To report long-term follow-up of patients with pigmented paravenous retinochoroidal atrophy (PPRCA) and to assess the involvement of the choroid and retinal pigment epithelium (RPE) in PPRCA. Methods: Clinical features of PPRCA were studied retrospectively in four patients followed for 6–26 years. Retinal pigment epithelium and choroidal changes were analysed with fluorescein and indocyanine green (ICG) angiography. Results: The two younger patients, aged 16 and 28 years and followed for 6 and 18 years, respectively, showed stationary RPE atrophy and pigmentation. Indocyanine green angiography visualized slight to modest atrophy of the choriocapillaris. The two older patients, aged 69 and 70 years and each followed for 26 years, showed slow progression of disease during follow-up. Indocyanine green angiography revealed choriocapillaris atrophy partly extending into the areas shown as hyperfluorescent in fluorescein angiography. Conclusion: Pigmented paravenous retinochoroidal atrophy is probably a slowly progressive disease, particularly in older patients. The choriocapillaris atrophy in this disease is more properly evaluated by ICG angiography and can be underestimated by fluorescein anigiography.

This disease was probably first described under the name of sclerosis choroidea circinata by Knapp in 1907 [1]. Sorsby mentions this case in his classification of retinal and choroidal abiotrophies under the name ‘paracentral choroidal sclerosis’ [5, 6]. Krill and Archer, in 1971, mention again this disease and add a new clinical case [2, 3]. Schocket and Ballin in 1970 describe yet another case which they call circinate choroidal sclerosis [4].

PURPOSE The authors sought to evaluate the progression of presumed choriocapillaris atrophy after surgical excision of a subfoveal choroidal neovascular membrane (CNV) in an 80-year-old man with age-related macular degeneration. METHODS The CNV was excised using a conventional three-port vitrectomy with subretinal dissection. The excised tissue was studied with light and electron microscopy. Preoperative and serial postoperative fluorescein angiograms (FA) and fundus photographs were obtained to study the dissection bed. RESULTS Seven days after surgery, the FA showed hyperfluorescence in the area previously occupied by the CNV. Six weeks after surgery, this area showed retinal pigment epithelium (RPE) depigmentation, atrophy, or both on clinical examination, and the FA showed presumed choriocapillaris nonperfusion. Seven months after surgery, the area of the RPE depigmentation or atrophy and the corresponding area of presumed choriocapillaris nonperfusion had enlarged. The area of depigmentation or atrophy continued to enlarge for 1 year after surgery. Histologically, the excised CNV specimen disclosed RPE cells but no choriocapillaris. CONCLUSIONS Presumed choriocapillaris nonperfusion after CNV excision may be due to RPE removal at surgery and may progress postoperatively.

AIMS/BACKGROUND To evaluate macular changes following surgical excision of subfoveal choroidal neovascular membranes (CNVs) in age-related macular degeneration (AMD). METHODS The clinical records, fluorescein angiograms, and CNV histopathology of 12 patients with AMD who underwent surgical excision of subfoveal CNV were reviewed. RESULTS New areas of decreased choriocapillaris perfusion were noted by fluorescein angiography in the previous location of the CNV in 8/12 (75%) cases. Surgically excised tissue contained retinal pigment epithelium (RPE) in 11/11 specimens and choriocapillaris in 1/11 specimen studied. CONCLUSIONS Choriocapillaris atrophy may partly underlie the limited visual outcome following subfoveal surgery for AMD. Abnormal choriocapillaris perfusion following CNV excision may be due to pre-existing choriocapillaris atrophy, to choriocapillaris damage or removal at the time of surgery, or to RPE removal at surgery with abnormal RPE repopulation of the dissected area and subsequent choriocapillaris degeneration.

The purpose of this study is to report clinical, optical coherence tomography (OCT), and fluorescein angiogram/indocyanine green angiography (FA/ICG) findings in patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) enzyme deficiency in two siblings. A 13-year-old girl and her 14-year-old brother presented with progressive decrease in central vision. Clinically, there were blond-looking fundi, diffuse retinal pigment epithelial (RPE) disruption/atrophy in the macula and peripheral retina with choriocapillaris atrophy in both of them. OCT showed RPE irregularity and diffuse disruption of the RPE layer. FA/ICG imaging demonstrated transmitted choroidal fluorescence secondary to diffuse RPE atrophy with no evidence of leakage. Electroretinogram and electrooculogram findings were suggestive of primary abnormality of pigment epithelium. The boy died of cardiac/respiratory illness, whereas his sister is alive at the last follow-up. Abnormal chorioretinal findings in LCHAD patients should be carefully followed. Regular follow-up is recommended to monitor the ocular and systemic status.

Inactive subretinal new vessels (SRNVs), showing minimal leakage by fluorescein angiography and little progression, were observed in 15 eyes of 12 patients with age-related macular degeneration. In 8 (57%) of 14 eyes followed for longer than 6 months, the new vessels involuted and produced circumscribed areas of retinal pigment epithelium and choriocapillaris atrophy; 6 (43%) showed a further decrease in the fluorescein leakage during the follow-up period (average, 30.1 months). None of the new vessels organized into an exudative fibrovascular scar. Visual acuity was improved or unchanged during the entire follow-up period in 12 (86%) eyes and deteriorated in 2 (14%). Nine patients (75%) were 80 years of age or older; three (25%) were between 65 and 70 years of age. These observations suggested that SRNV showing minimal fluorescein leakage, particularly when it occurs in patients older than 80 years, do not require photocoagulation because they are usually self-limited.

To the Editor: We thank Dr. Abramson et al for their interesting comments regarding our article.1 Abramson et al specifically challenge that choroidal vascular occlusion is the sole mechanism responsible for the fundoscopic changes illustrated in Figures 1 (Patient 1) and 2 (Patient 9), but rather think that the pattern of the chorioretinal lesions is related to the area of previous retinal detachment. They postulate a subretinal accumulation of Melphalan leading to retinal pigment epithelium and retinal toxicity. However, the proposed mechanism not only does not account for the sharply demarcated choriocapillaris occlusion (see Figure 1F in Munier et al 1) but also fails to correlate with previously detached areas. In support of this we show a novel fundus montage from Patient 1 (Figure 1) 3 weeks after the first superselective ophthalmic artery chemotherapy (SOAC) session. The extent of the retinal detachment is well delineated and almost symmetrically opposed to the final occluded chorioretinal territory (see Figure 1F in Munier et al 1). Similarly Patient 9 presented a total retinal detachment after the first SOAC session, which spontaneously reattached except inferonasally (Figure 2). Here again there is no correlation between retinal detachment and choriocapillaris atrophy. The fact that large choroidal vessels are still angiographically visible in the atrophic area in Patient 1 (see Figure 1F in Munier et al 1) is not inconsistent with the occlusion of the temporal short posterior ciliary arteries leading to choriocapillaris infarction, eventually followed in this case by spontaneous reperfusion of the large vessels. This interpretation is further supported by Figure 2 from Patient 9, in whom the altered vascular bed is shown to spare the far peripheral choroid normally perfused by peripheral retrograde choroidal arteries originating from the long posterior ciliary arteries and/or the anterior ciliary arteries.2 Alternatively it is possible that choroidal (and not subretinal) accumulation of Melphalan, secondary to an uneven drug distribution within the ophthalmic artery leading to preferential temporal short posterior ciliary perfusion of Melphalan, may cause choriocapillaris and retinal pigment epithelium toxic infarction. According to our physiopathologic hypotheses, the sectoral aspect of the chorioretinal atrophy would be the result of confluent triangular syndromes of occlusive or toxic etiology. Fig. 1 opens a modal window Fig. 1 Fig. 2 opens a modal window Fig. 2 Finally we agree with Abramson et al that an alteration of the vascular pressure during the SOAC procedure may well represent an alternative etiology of the Roth spots in Patient 3. In conclusion, we agree that SOAC appears to be highly efficient for advanced retinoblastoma. However, we think that safety and visual prognosis associated with SOAC were not paid the attention they deserve. Our study aimed at safety issues is the first to draw attention to visual outcome. The recent literature contains an increasing number of reports with positive SOAC results, while the negative ones tend to remain unpublished. We know from floor discussions during specialty meetings that several groups experienced severe complications such as central retinal artery occlusions (all unpublished, but Shields and Shields 3). Since the publication of our article, we observed an additional case of temporal chorioretinal atrophy and light perception in a patient seeking a second opinion after SOAC performed elsewhere. In this case, fluorescein angiography, performed 3 months after the third injection, displayed a silent choroid, that is, complete choroid occlusion and obviously no reperfusion of the large vessels (data not shown). We therefore remind that, without further evidence regarding safety and final vision, SOAC indications should be restricted to advanced retinoblastoma as an alternative to external beam radiotherapy and/or enucleation.

AIMS/BACKGROUND—To correlate the histopathology of an excised choroidal neovascular membrane (CNV) with the clinical and angiographic findings in a 32-year-old woman with pseudotumour cerebri and a peripapillary CNV with subfoveal extension. METHODS—The patient's visual acuity was assessed by individuals experienced in low vision refraction and who were not members of the surgical team. The CNV was excised via a conventional three port vitrectomy with subretinal dissection. The excised tissue was studied with light and electron microscopy. Preoperative and serial postoperative fluorescein angiograms (FAs) and fundus photographs were obtained to study the dissection bed. RESULTS—One week after surgery, the FA showed mottled subfoveal choriocapillaris perfusion. Three weeks after surgery, this area showed retinal pigment epithelium (RPE) atrophy clinically, and the FA showed choriocapillaris non-perfusion. Six months after surgery, the area of RPE atrophy and the corresponding area of choriocapillaris non-perfusion had expanded. Histologically, the excised CNV disclosed hyperplastic RPE, fibrovascular tissue, and no choriocapillaris. Fragments of RPE basement were present along the external edge of the specimen. The patient's visual acuity did not improve significantly after surgery. CONCLUSIONS—Choriocapillaris non-perfusion can develop even in young patients following CNV excision. In this particular case, it is believed that choriocapillaris atrophy was caused by incomplete ingrowth of RPE into the dissection bed following RPE removal with CNV excision. As far as is known, this is the first report describing the results of surgery for CNV secondary to papilloedema associated with pseudotumour cerebri.

Purpose To determine the ophthalmologic findings in a 39-year-old woman with the Boucher-Neuhauser syndrome, which is a disorder of autosomal recessive inheritance characterized by the triad of spinocerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism. Methods The patient underwent clinical and electrophysiologic examinations and fluorescein angiography. Results The main clinical findings were extensive areas of retinal pigment epithelial and choriocapillaris atrophy affecting the posterior pole and midperiphery of both eyes. Results of electroretinographic examination showed subnormal photopic and scotopic responses. Conclusions The Boucher-Neuhauser syndrome should be included in the differential diagnosis of patients with chorioretinal degeneration, particularly if there are neurologic or endocrinologic manifestations.

To report a case of Boucher-Neuhäuser syndrome, which is an autosomal recessive disorder characterized by the triad of spinocerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism. An 18-year-old man was seen for visual problems, which had been diagnosed as retinitis pigmentosa at the age of 12 years. His puberty was delayed. At 16 years of age, the patient experienced progressive deterioration of his balance and gait disturbance. Then he was referred to our clinic because Boucher-Neuhäuser syndrome was suspected. He had no specific family history; his visual acuity was 0.04 in both eyes. We observed broad retinal pigment epithelium atrophy and degeneration in both fundi. Both fluorescein and indocyanine green angiography showed choriocapillaris atrophy in the posterior pole area and midperiphery. Macular optical coherence tomography showed thinning of the neurosensory retina. An electroretinographic examination showed no photopic or scotopic responses. The Boucher-Neuhäuser syndrome should be included in the differential diagnosis of patients with retinitis pigment epithelium atrophy and degeneration.

Between August 1, 1982, and December 31, 1988, 487 patients with clinically established or suspected diagnosis of a hereditary degenerative or dystrophic disorder of the ocular fundus or of a disorder of the optic pathways were evaluated with an extensive set of clinical and electrophysiological tests, 67% of the patients were referred from other eye departments. In order of magnitude the most frequently encountered diagnoses were: 1) 'functional' disturbances (18%), 2) disorders of the optic nerve (9%), 3) retinitis pigmentosa (8%), 4), 5) and 6) progressive cone dystrophy, disorders of the central optic pathways, and fundus flavimaculatus/Stargardt's disease (5% each), and 7) choriocapillaris atrophy (4%). Choriocapillaris atrophy affected older patients than retinitis pigmentosa (P less than 0.001). A male preponderance was observed for juvenile retinoschisis (P less than 0.005) and congenital stationary night blindness (P less than 0.05), and a female dominance in the groups of patients with 'functional' symptoms (P less than 0.01). A specific diagnosis was established in 469 patients. After exclusion of 16 patients referred because of a known hereditary disposition, 196 (43%) of the remaining 453 patients were referred under the same diagnosis as our final diagnosis, 153 (34%) under a different diagnosis and 104 (23%) without any clear diagnosis. Obviously, there is a need for regional centers specialized in these disorders.

OBJECTIVE: To report the clinical, functional, and in vivo microanatomic characteristics of a family with choroideremia with a deletion of the entire gene that encodes for the Rab escort protein 1 (CHM). METHODS: We performed clinical examination, flash electroretinography (ERG), light- and dark-adapted perimetry, and optical coherence tomography; reviewed medical records; and obtained the medical history of the proband and 3 other family members. RESULTS: At 4 years of age, the proband had a hypopigmented fundus and retinal pigment epithelium mottling, and dark-adapted ERGs were reduced. Severe retinal pigment epithelium and choriocapillaris atrophy developed by 6 years of age, paralleled by a lesser ERG decline. Optical coherence tomography findings showed normal neural retinas overlying mild changes in the retinal pigment epithelium and thinned neural retina with impaired lamination, yet the neural retina was fairly preserved over retinal pigment epithelium and choriocapillaris atrophy. The carrier mother had diffuse elevation of 650-nm dark-adapted thresholds. CONCLUSIONS: Deletion of the CHM gene causes severe choroideremia. Results of serial ERGs and fundus examinations documented progression first of rod and then of cone disease. Fundus appearance deteriorated rapidly, in excess of the severity of the ERG decline. Optical coherence tomography findings explained this observation, at least in part. CLINICAL RELEVANCE: To our knowledge, this is the earliest clinical, microanatomic, and ERG longitudinal phenotypic documentation in molecularly characterized choroideremia and the first documentation of impaired dark-adapted cone function in carriers. The preservation of the neural retina has mechanistic, prognostic, and therapeutic implications

We report herein a case of choroicapillaris atrophy that developed after surgical excision of a subfoveal neovascular membrane (SFNVM) in a patient with presumed ocular histoplasmosis syndrome. Report of a Case. A 42-year-old man presented with a 3-month history of decreased vision in the right eye. His visual acuity was 20/400 OD and 20/20 OS. A fundus examination revealed peripheral spots consistent with presumed ocular histoplasmosis syndrome in the left eye and an SFNVM in the right eye. Twenty-four hours later, the patient underwent surgical excision of the SFNVM using a previously described technique. 1 Two weeks postoperatively, fluorescein angiography revealed filling of the choriocapillaris in the area of the excised SFNVM, with surrounding blocked fluorescence ( Figure 1 , arrowhead 1). Atrophy of the choriocapillaris was present in the area under the retinotomy site (Figure 1, arrowhead 2). Two months postoperatively, the patient's vision had improved to 20/40. Fluorescein angiography

Three young children showed a similar fundus appearance of sharply defined, yellowish-white, patchy or geographic atrophy of the retina and choroid and visible large choroidal vessels in almost the entire fundus. Fluorescein angiography disclosed atrophy of the retinal pigment epithelium and loss of choriocapillaris. Their visual functions and electrophysiologic findings were also similar. Family A was diagnosed as having diffuse choriocapillaris atrophy with autosomal dominant inheritance; family B, choroideremia with X-linked recessive heredity; and family C, gyrate atrophy of the choroid and retina with hyperornithinemia and autosomal recessive transmission. It became evident that diffuse choriocapillaris atrophy, choroideremia, and gyrate atrophy sometimes show a similar fundus appearance. Fluorescein angiography, serum ornithine levels, and family history were particularly helpful to differentiate these diffuse choroidal atrophies.

Autopsy and clinical studies were performed in a family with dominantly inherited retinitis pigmentosa. The eyes of two senior members of the family were obtained for histopathologic study, while three other family members were studied clinically. All family members studied had visual field loss, nyctalopia, and a spectrum of pigmentary disruption. There was variable expressivity of pigmentary migration, foveal atrophic changes, surface wrinkling retinopathy, choriocapillaris atrophy, drusen, vitreous synchysis, and optic pallor. Three specific zones of retinal and retinal pigment epithelial changes were identified histopathologically. A clinicopathologic correlation is presented.

A set-up for D.C. recordings of slow ocular potentials such as the c-wave of the electroretinogram (ERG) as well as the fast oscillation (FO), the light peak (LP) and the dark trough (DT) in both clinical and experimental work is described. It includes matched calomel half-cells connected by saline-agar bridges to a corneal contact lens on the eye and a reference chamber on the forehead, a low-drift differential-input D.C. amplifier, an A/D converter, a computer, a thermoprinter, a flexible disc memory, a plotter, and a device for light stimulation controlled by the computer. Examples of the usefulness of the set-up in clinical work are shown in the form of D.C. c-wave ERGs of normal subjects as well as of patients with vitelliform macular degeneration, choriocapillaris atrophy, and retinitis pigmentosa. The direct corneal recording of the FO and LP is demonstrated as well. The different origins of the standing potential (SP) of the eye, the ERG c-wave, the FO and the LP are reviewed briefly.

Three members of a family with central areolar choroidal dystrophy showed the early and late stages of this disorder. The youngest affected was a 12-year-old girl who exhibited decreased vision, a red-green dyschromatopsia, and mild granularity of the macula with a diffuse foveal reflex. A discrete focal loss of choriocapillaris in the macula was seen on fluorescein angiography. This indicates that choriocapillaris atrophy is an early finding in this disease.

A 23-year-old woman presented with a clearly defined, pale orange choroidal tumor superior to the right optic disc in 1976. The patient was followed. After a choroidal osteoma was first reported in 1977, this diagnosis was confirmed in this patient using ultrasonography and orbital tomography. The lesion grew very slowly over the next 5 years. In 1981, the choroidal osteoma began to thin and decalcify. Subretinal neovascularization developed in 1982 and was treated with argon laser photocoagulation. In 1983, the tumor was thinner and less calcified. During the next 18 months, it became completely decalcified and essentially disappeared leaving only a bed of pigment epithelial and choriocapillaris atrophy. This was confirmed with fluorescein angiography and ultrasonography.

The results of vitreous fluorophotometry in a variety of retinal and systemic diseases are described, particularly in photoreceptor and retinal pigment epithelium dystrophies, in Best dystrophy, in choriocapillaris atrophy, in choroidemia and in inflammatory conditions, and in cystoid aphakic and non-aphakic macular edema. The patterns involved in breakdown of the blood-retinal barrier are defined for various diseases, and an attempt is made to characterize each disease type by a fluorophotometric "profile."