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PURPOSE: This study aims to investigate the role of in vivo corneal confocal microscopy (IVCCM) in the detection of corneal inflammatory activity and subbasal nerve alterations in patients with multiple sclerosis (MS) and to further determine whether IVCCM can be used to detect (acute) disease relapse.

Purpose: To compare the success rates of balloon dacryocystoplasty (BDP) and probing as a primary procedure in congenital nasolacrimal duct obstruction (CNLDO) and investigate the effect of age on both procedures.Methods: A total of 135 patients (171 eyes) with simple or incomplete complex CNLDO were included in this retrospective study; complete complex CNLDO cases were excluded. The success rates for primary BDP (118 eyes) and for probing (53 eyes) were compared as overall and among the age groups; Group 1 (12–24 months old), Group 2 (25–36 months old), and Group 3 (> 36 months old).Results: Mean age of the patients was 41.5±27.2 months for primary BDP, and 21.8±10.8 months for probing (pConclusion: Probing success decreased to a point where different treatment options such as primary BDP can be discussed with the patient’s parents after 18 months of age. The success of BDP decreased after 36 months, while it maintained a high success rate between 24-36 months as primary treatment.

Purpose To assess morphological changes and visual results in eyes with pachychoroid neovasculopathy (PNV) that underwent different intravitreal anti-vascular endothelial growth factor (VEGF) agents. Materials and methods This is a retrospective, observational, comparative study that included 76 PNV eyes in 76 patients that were allocated to three groups according to the monotherapy injection procedure, as follows: the intravitreal bevacizumab (IVB) group, intravitreal ranibizumab (IVR) group, and intravitreal aflibercept (IVA) group. Central macular thickness (CMT), best-corrected visual acuity (BCVA), and subfoveal choroidal thickness (SFCT) were measured at baseline, after treatment 1st month, 3rd month, 6th month, and 12th month, and at the final post-treatment examination. Results Mean age of the patients was 57.31 +/- 5.91 years (range: 34-67 years). The mean duration of follow-up was 31.50 +/- 12.91 months (range: 13-60 months). The IVB group included 30 eyes, the IVR group included 22 eyes, and the IVA group included 24 eyes. There weren\"t any significant differences in BCVA changes between the groups at any post-baseline measurement time point. Although CMT did not change significantly in the IVB group from baseline to the final follow-up visit (baseline: 376.33 +/- 86.31 mu m; final visit: 340.80 +/- 122.70 mu m) (p = 0.172), CMT did change significantly in the IVA group (baseline: 383.41 +/- 131.83 mu m; final visit: 297.33 +/- 103.81 mu m) (p = 0.029) and IVR group (baseline: 379.18 +/- 97.93 mu m; final visit: 335.72 +/- 111.45 mu m) (p = 0.041). SFCT decreased significantly in the IVR and IVA groups (p = 0.015 and p < 0.001, respectively). The mean number of injections was 12.06 +/- 4.72 (range: 6-20) in the IVB group, 11.81 +/- 3.31(range: 7-17) in the IVR group, and 7.16 +/- 3.15 (range: 4-13) in the IVA group (p = 0.004). Conclusion All three anti-VEGFs were effective in terms of visual results in patients with PNV. Patients treated with IVA required fewer injections than those treated with IVB or IVR. Furthermore, IVR and IVA treatment significantly decreased SFCT, whereas IVB did not.

Purpose To research whether serum vascular endothelial growth factor (VEGF) levels could be used to evaluate diabetic retinopathy (DR) progression and to compare vitreous VEGF levels after injections of intravitreal bevacizumab (IVB), ranibizumab (IVR), and triamcinolone acetonide (IVTA) in proliferative diabetic retinopathy (PDR). Methods We enrolled a total of 91 eyes of 89 subjects (70 eyes of 68 diabetics and 21 eyes of 21 nondiabetic controls). The diabetic subjects were divided into three groups as PDR (n=28), non-proliferative diabetic retinopathy (n=20), and no-DR (n=20). Eyes with PDR (n=31) were injected with IVB (n=7), IVR (n=10), or IVTA (n=6) 3 days before vitrectomy, and eight eyes did not receive an injection. Serum and vitreous samples were collected before vitrectomy and analyzed using ELISA. Results We found the severity of retinopathy was not correlated with serum VEGF levels (P=.919, ρ=−0.011). Compared with the controls, vitreous VEGF was higher in the PDR (P

Purpose To evaluate the efficacy and safety of topical dexamethasone (DEX) eye drops in combination with a single perioperative subtenon triamcinolone acetonide (sTA) injection versus conventional topical DEX eye drops in the prevention of ocular inflammation and cystoid macular edema following cataract surgery. Materials and methods Medical records of 245 eyes of 245 patients who underwent uncomplicated cataract surgery were analyzed in this retrospective controlled clinical study. Topical DEX eye drops were administered to 128 eyes routinely postoperatively, and 117 eyes were given a single dose of sTA (40 mg/ml) together with topical DEX eye drops for postoperative care. Postoperative topical antibiotic prophylaxis was applied to all eyes. The primary outcomes were anterior chamber (AC) cells and flare, central macular thickness (CMT), best corrected visual acuity (BCVA), and intraocular pressure (IOP) measurements on day 7, day 30, day 90, and day 180 following surgery. Results Although CMT increased in the DEX group, no increment was observed in the DEX + sTA treated group for all follow-up periods (on day 7 (+1.3 +/- 18.6 and -8.7 +/- 21.9 mu m, p = 0.038), on day 30 (+20.5 +/- 58.4 and -4.1 +/- 25.2 mu m, p = 0.009), on day 90 (+7.2 +/- 19.9 and -5.7 +/- 30.6 mu m, p = 0.029), and on day 180 (+8.2 +/- 22.6 and -6.4 +/- 32.9 mu m, p = 0.032)). There was no significant difference in terms of AC cells and flare between the two groups during the entire follow-up period (p > 0.05). Significant improvement in BCVA was observed in the DEX + sTA group at day 30 (p = 0.008). IOP differences were comparable, and both groups had high ocular tolerance. There were no severe adverse effects recorded. Conclusions Topical DEX eye drops in combination with single dose perioperative injection of sTA have robust efficacy in preventing ocular inflammation and the development of cystoid macular edema following uncomplicated cataract surgery.

Purpose: It was aimed to evaluate the results of simultaneous bilateral endoscopic dacryocystorhinostomy (DCR).Method: Simultaneous bilateral endoscopic DCR was applied to patients with bilateral acquired nasolacrimal duct obstruction who applied to Marmara University, Department of Ophthalmology between 2020-2022. Patients with punctal - canaliculi occlusion and a history of previous DCR were excluded from the study. Only Kerrison punch and curettes were used for bone excision in all cases, and lacrimal intubation was applied to all eyes. History of dacryocystitis, duration of symptoms and surgery, complications, and functional and anatomical success parameters were evaluated.Results: Twenty-four eyes of 12 patients were included in the study. The female ratio was 4/12 (33.3%), and the mean age of the patients was 50.9±9.1 years. Six eyes (25%) had a history of dacryocystitis. The mean time to development of symptoms was 9.21±4.14 months. The mean operation time per eye was 37.08±6.41 (min:25-max:50) minutes. The functional and anatomical success rates at 3 months were 91.7% (n=22) and 95.8% (n=23), respectively; and 6 months success rates were 87.5% (n=21) and 91.7% (n=22), respectively. While no perioperative complication was observed, the hematoma was seen in 4 eyes (16.6%), and intranasal bleeding occurred in 2 eyes (8.3%) postoperatively. In one of the anatomically unsuccessful eyes, the lacrimal intubation tube extruded on the 3rd postoperative day, and another eye had a history of dacryocystitis.Conclusion: Simultaneous endoscopic DCR can be applied as a useful method in bilateral acquired nasolacrimal duct obstructions with its high anatomical and functional success rate, short operation time, and low complication rates.

Purpose: To report the fundus photographs and spectral domain optical coherence tomography (SD-OCT) findings of a patient with subacute sclerosing panencephalitis (SSPE) presenting merely with ocular symptoms. Case report: A 20-year-old patient presented with sudden loss of vision in the left eye (LE). Fundus photograph showed a yellow lesion in the macula and SD-OCT showed increased reflectivity of the inner retinal layers. Disorganization of the necrotizing retinal layers in the LE gradually progressed to the atrophic retina. Then, visual complaints began in the right eye (RE) accompanied by neurological symptoms. SD-OCT revealed the inner and outer plexiform layers edema and interruption of the ellipsoid zone in RE. Fundus photographs showed macular atrophy for both eyes on the day patient died. Conclusion: This case report demonstrates the SD-OCT findings of SSPE retinitis with close follow-up from the acute retinitis to the total atrophic macula. These unique findings may be considered as characteristical for the diagnosis.

Purpose: To investigate the molecular basis of recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia in two consanguineous families. Methods: Conventional autozygosity mapping was performed using single nucleotide polymorphism (SNP) microarrays. Whole-exome sequencing was completed on genomic DNA from one affected member of each family. Exome sequence data were also used for homozygosity mapping and copy number variation analysis. PCR and Sanger sequencing were used to confirm the identification of mutations and to screen further patients. Evolutionary conservation of protein sequences was assessed using CLUSTALW, and protein structures were modeled using PyMol. Results: In family MEP68, a novel homozygous nucleotide substitution in SIX6 was found, c.547G>C, that converts the evolutionarily conserved aspartic acid residue at the 183rd amino acid in the protein to a histidine, p.(Asp183His). This residue mapped to the third helix of the DNA-binding homeobox domain in SIX6, which interacts with the major groove of double-stranded DNA. This interaction is likely to be disrupted by the mutation. In family F1332, a novel homozygous 1034 bp deletion that encompasses the first exon of SIX6 was identified, chr14:g.60975890_60976923del. Both mutations segregated with the disease phenotype as expected for a recessive condition and were absent from publicly available variant databases. Conclusions: Our findings expand the mutation spectrum in this form of inherited eye disease and confirm that homozygous human SIX6 mutations cause a developmental spectrum of ocular phenotypes that includes not only the p

Amaç:Optik gliom nedeniyle takip edilen pediatrik hastaların en iyi düzeltilmiş görme keskinliği (EİDGK, logMAR), flaş görsel uyarılmış potansiyeller (fVEP) ve manyetik rezonans görüntüleme (MRG) sonuçlarının karşılaştırılması.Yöntem:Marmara Üniversitesi Göz Hastalıkları, Pediatrik Onkoloji ve Radyoloji bölümlerince takip edilen 22 pediatrik optik gliom hastasının 38 gözü çalışmaya dahil edildi. Hastaların başlangıç ve son takipteki EİDGK’leri, MRG’deki optik sinir kalınlıkları (OSK), kontrast tutulumları, sinyal değişimleri ve fVEP’te P2 dalgasının amplitüd ve latansları değerlendirildi.Bulgular:Hastaların yaş ortalamaları 12±5.7 yıl ve kız/erkek oranı 13/9 idi. Ortalama takip süresi 63.95±24.5 ay olarak bulundu. Gözlerin ilk ve son EİDGK’leri sırasıyla, ortanca (1.ve 3. çeyrekler aralığı) 0.2 (0-2.18) ve 0.2 (0-2.3) logMAR (p=0.586); MRG’de ölçülen ortalama OSK’leri sırasıyla, 6.51±6.03 ve 6.31±7.84 mm (p=0.650); fVEP P2 dalga ortalama amplitüdleri sırasıyla, 16.68±14.21 ve 17.93±11.96 mV (p=0.577) ve ortalama latansları sırasıyla, 149.38±50.30 ve 133.39±29.78 ms (p=0.009) olarak saptandı. Son logMAR EİDGK ile OSK (r=0.434, p=0.015), P2 amplitüdü (r=-0.432, p=0.014)) ve P2 latansı (r=0.614, p0.05). P2 latansı ile MRG’de görülen sinyal (r=0.426, p=0.013) ve kontrast tutulumu (r=0.386, p=0.027) değişiklikleri arasında anlamlı korelasyon olduğu görüldü.Sonuç:Optik gliom hastalarında fVEP P2 dalga amplitüdleri ve latansları EİDGK ile ilişkili gözükmektedir. Ayrıca, P2 dalga latansının MRG’de görülen sinyal ve kontast tutulumu değişiklikleri ile de ilişkili olduğu görülmektedir. Bu bulgular, özellikle preverbal yaştaki optik gliom hastalarının değerlendirilmesinde ve hastalık ilerlemesinin takibinde fVEP’in kulanılabileceğini göstermektedir.

GİRİŞVE AMAÇ:Görme kaybı ile başvuran pediatrik hastaların demografik verileri, verilen tedavileri ve tanılarını incelemek.YÖNTEM:Marmara Üniversitesi Hastanesi acil servisine 2021 yılı içerisinde optik sinir veya nörolojik kaynaklı görme keskinliği veya görme alanı kaybı ile başvuran hastalar çalışmaya dahil edildi. Diğer oftalmolojik nedenli görme kayıpları çalışmadan dışlandı. Hastaların demografik verileri, manyetik rezonans görüntülemeleri (MRG), en iyi düzeltilmişgörme keskinlikleri (EİDGK) (logMAR), oftalmolojik ve nörolojik muayenelerine ek olarak verilen tedaviler ve sonuç tanıları incelendi.BULGULAR:Çalışmaya 25 hasta dahil edildi. Hastaların ortalama yaşı 13.8±3.2 yıldı ve 15 (%60) hasta kız çocuğuydu. Hastalardan 11’i (%44) unilateral, 14’ü (%56) bilateral görme kaybı ile başvurdu. Hastaların %28’inde (n=7) ağrılı görme kaybı bulunurken, %44’ünde (n=11) eşlik eden ek nörolojik semptomlar vardı.İlk başvuru anında 15 hastada (%60) optik disk kabarıklığı mevcuttu. Beyin MRG değerlendirilmesinde 9 hastada (%36) optik sinirin orbital kısmında kontrast tutulumu izlenirken, ek kraniyal patolojik bulgu 11 hastada (%44) görüldü. Onbeşhastaya (%60) uygulanan lomber ponksiyonda ortalama açılışbasıncı 28.27 ± 23 cmH2O olarak bulundu. Hastaların 14’üne (%56) intravenöz metilprednizolon, 5’ine (%20) asetazolomid ve boşaltıcı LP uygulanırken, 6 hasta (%24) destek tedavisi ile takip edildi. Toplam 41 gözün başvuru anındaki ortalama EİDGK 1.02±1.09 logMAR ve sonuç EİDGK 0.48±0.79 logMAR olarak bulundu (p=0.001). Takiplerde hastaların 8’ine (%32) idiyopatik optik nörit, 5’ine (%20) idiyopatik intrakraniyal hipertansiyon (IIH), 4’üne (%16) multiple skleroz (MS), 3’er hasta (%12) metabolik ve herediter optik nöropati, 1 hastaya (%4) MOG ilişkili optik nörit ve 1 hastaya (%4) iskemik optik nöropati nedeniyle görme kaybı tanısı konuldu.TARTIŞMA VE SONUÇ:Acil servise başvuran pediyatrik görme kayıplarının en sık nedenini idiyopatik optik nörit oluşturmakta ve bunu IIH ve MS takip etmektedir.

Purpose: To evaluate the clinical features of pediatric patients with acute-onset, unilateral transient acquired blepharoptosis. Methods: In this retrospective study, the clinical records of patients between April 2015 and June 2020 were reviewed for evaluation of demographic features, accompanying neurological and ophthalmologic manifestations, symptom duration, etiological cause, and imaging findings. Patients with congenital and acquired blepharoptosis with chronic etiologies were excluded. Results: Sixteen pediatric patients (10 boys and 6 girls) with acquired acute-onset unilateral transient blepharoptosis were included in this study. The patients’ mean age was 6.93 ± 3.16 years. The most commonly identified etiological cause was trauma in 7 patients (43.75%) and infection (para-infection) in 5 patients (31.25%). In addition, Miller Fisher syndrome, Horner syndrome secondary to neuroblastoma, acquired Brown’s syndrome, and pseudotumor cerebri were identified as etiological causes in one patient each. Additional ocular findings accompanied blepharoptosis in 7 patients (58.33%). Blepharoptosis spontaneously resolved, without treatment, in all the patients, except those with Miller Fisher syndrome, neuroblastoma, and pseudotumor cerebri. None of the patients required surgical treatment and had ocular morbidities such as amblyopia. Conclusion: This study demonstrated that acute-onset unilateral transient blepharoptosis, which is rare in childhood, may regress without the need for surgical treatment in the pediatric population. However, serious pathologies that require treatment may present with blepharoptosis. RESUMO Objetivo: Avaliar as características clínicas de pacientes pediátricos com blefaroptose adquirida unilateral, transitória e de início agudo. Métodos: Neste estudo retrospectivo, foram revisados prontuários clínicos entre abril de 2015 e junho de 2020. Os pacientes foram avaliados em termos de características demográficas, manifestações neurológicas e oftalmológicas associadas, duração dos sintomas, etiologia e achados de imagem. Foram excluídos pacientes com blefaroptose congênita e com blefaroptose adquirida de etiologia crônica. Resultados: Foram incluídos neste estudo 16 pacientes pediátricos (10 masculinos e 6 femininos) com blefaroptose adquirida transitória unilateral de início agudo. A média de idade dos pacientes foi de 6,93 ± 3,16 anos. As causas etiológicas mais comumente identificadas foram trauma em 7 pacientes (43,75%) e infecção (casos parainfecciosos) em 5 pacientes (31,25%). Além disso, a síndrome de Miller-Fisher, a síndrome de Horner secundária a neuroblastoma, a síndrome de Brown adquirida e pseudotumor cerebral foram determinados como causas etiológicas em um paciente cada uma. Achados oculares adicionais estavam associados à blefaroptose em 7 pacientes (58,33%). Foi observada a resolução espontânea da blefaroptose, sem tratamento, em todos os pacientes, exceto nos pacientes com síndrome de Miller-Fisher, neuroblastoma e pseudotumor cerebral. Nenhum paciente precisou de tratamento cirúrgico. Morbidades oculares, como ambliopia, não foram encontradas em nenhum paciente. Conclusão: Este estudo demonstrou que a blefaroptose transitória unilateral de início agudo, rara na infância, pode regredir sem a necessidade de tratamento cirúrgico na população pediátrica. No entanto, também não deve ser esquecido que patologias graves que requerem tratamento podem se apresentar com blefaroptose.

Straatsma syndrome is the triad of myelinated retinal nerve fibers, myopia, and amblyopia and may be associated with strabismus, nystagmus, hypoplastic optic nerve, and heterochromia iridum. The degree of anisometropia, presence of strabismus, extent of myelination, and macular involvement have been reported to be associated with poor visual acuity after occlusion therapy for amblyopia in this syndrome. Here we present two cases of Straatsma syndrome with different responses to occlusion therapy and discuss their treatment responses according to prognostic factors for post-occlusion visual acuity. Keywords: Amblyopia, myelinated retinal nerve fibers, straatsma syndrome, prognostic factors

The majority of the tissues and organs that fall into the area of expertise of ear, nose and throat (ENT) specialists are adjacent to the orbit, and therefore to the globe. As a result of this contiguity, ENT diseases can spread to the orbit and present with various orbital complications. While these complications can be mild, they can also manifest as severe morbidities that lead to permanent loss of vision. In addition, ENT diseases can also spread to the cranium as well as the orbit, and lead to severe intracranial complications that may result in mortality. Such intracranial complications may also manifest with findings in an ophthalmological examination, as many cranial nerves (CNs) are also associated with the orbital structures. This is why ENT specialists commonly encounter ophthalmological findings as a result of both the orbital and cranial complications of infectious ENT diseases. In addition, ophthalmological examination findings are useful for diagnosis, as some infectious agents can cause a common infection both in the ocular and head-neck regions.

The majority of the tissues and organs that fall into the area of expertise of ear, nose and throat (ENT) specialists are adjacent to the orbit, and therefore to the globe. As a result of this contiguity, ENT diseases can spread to the orbit and present with various orbital complications. While these complications can be mild, they can also manifest as severe morbidities that lead to permanent loss of vision. In addition, ENT diseases can also spread to the cranium as well as the orbit, and lead to severe intracranial complications that may result in mortality. Such intracranial complications may also manifest with findings in an ophthalmological examination, as many cranial nerves (CNs) are also associated with the orbital structures. This is why ENT specialists commonly encounter ophthalmological findings as a result of both the orbital and cranial complications of infectious ENT diseases. In addition, ophthalmological examination findings are useful for diagnosis, as some infectious agents can cause a common infection both in the ocular and head-neck region.

Optik Koherens Tomografi (OKT), retinanın yüksek çözünürlükte görüntülenmesine olanak sağlayan, girişimsel olmayan bir görüntüleme yöntemidir. Retinal patolojiler hakkındaki kantitatif ve kalitatif verileri diğer görüntüleme yöntemlerinden daha hızlı elde etmeye olanak sağlaması nedeniyle diyabetik retinopatinin (DR) tanı ve takibinde OKT\"den giderek daha fazla yararlanılmaktadır. OKT\"nin oftalmolojik, özellikle de DR\"de, kullanımıyla birlikte birçok retinal lezyon daha ayrıntılı tanımlanmaya başlandı ve hatta bazı retinal değişiklikler ilk defa OKT ile gösterildi. Daha önce yapılan araştırmalar sonucunda, DR\"ye bağlı tespit edilen bir takım patolojik bulguların tedavi yanıtı üzerine ve nihai görme keskinliği üzerine öngörülebilir sonuçlar verdiği tespit edildi ve bu bulgulara prognostik değer biçilerek çeşitli biyobelirteçler tanımlandı. Günümüzde artık DR\"ye ait çeşitli komplikasyonların tanısında sıklıkla faydalandığımız OKT görüntülerinin hastaya ait klinik bulgular ile birlikte değerlendirilmesi, hem uygulanacak tedavinin erkenden belirlenebilmesi hem de hastalık prognozunun öngörülebilmesi açısından faydalı olacaktır. Optical Coherence Tomography (OCT) is a noninvasive imaging method that allows high resolution imaging of the retina. OCT is increasingly being used in the diagnosis and follow-up of diabetic retinopathy (DRP) as it allows quantitative and qualitative data about retinal pathologies to be obtained faster than other imaging methods. With the use of OCT in DRP, retinal lesions have been described in more detail and even some retinal changes have been shown for the first time. As a result of the previous studies, it was determined that some pathological findings related to DRP gave predictable results on the treatment response and prognosis, and various biomarkers were identified by evaluating these findings with prognostic value. Evaluation of OCT images, which is using frequently in diagnosis of DRP complications, together with clinical findings of the patient, will be useful in terms of both early determination of treatment modality and predicting disease prognosis.

Leber Konjenital Amorozisi (LKA), yaklaşık 150 yıl önce tanımlanan ve erken çocuklukta görme kaybıyla sonuçlanan, kalıtsal retina distrofilerinin en şiddetli olanlarından biridir. Doğumdan beri olan ya da bebeklik çağında başlayan görme kaybı, arayıcı nistagmus, zayıf ışık refleksi (amorotik pupil) ve tespit edilemez ya da ciddi azalmış tam-alan (full-field) ERG yanıtlarıyla karakterize olan hastalığın daha geç yaşlarda (genellikle 5 yaşından önce) başlayan \"Ciddi Erken Çocukluk Çağı Başlangıçlı Retinal Distrofi\" (CEBARD) olarak isimlendirilen daha hafif formlarının olduğu da bilinmektedir. LKA ve CEBARD klinik ve genetik olarak geniş çeşitlilik gösteren bir hastalık grubunu tanımlamaktadır. Günümüzde LKA/CEBARD’a sebep olduğu belirlenen 30 farklı gen mevcuttur ve tespit edilen bu genlerin hastalık spektrumunun yaklaşık %70-80’ini kapsadığı düşünülmektedir. Son yıllarda gen terapisi ile LKA/CEBARD tedavisinde ilk başarılı sonuçların bildirilmeye başlanması, hastalık grubunu araştırmaların ilgi odağı haline getirmiştir. Bu derlemede, LKA/CEBARD hastalığının genetik ve patofizyolojik temelleri, farklı genetik tiplerinin klinik özellikleri, tanısı, ayırıcı tanısı ve tedavisindeki güncel gelişmeler özetlenmektedir. Leber Congenital Amaurosis (LCA) is one of the most severe forms of hereditary retinal dystrophies described approximately 150 years ago and is a cause of vision loss early in childhood. Although LCA is characterized by wandering nystagmus, poor pupillary reflex (amaurotic pupils), and undetectable or severely abnormal ERG responses in infancy, there is a milder form called as Severe Early Childhood Onset Retinal Dystrophy (SECORD) presenting after infancy usually before the age of five. LCA and SECORD describe a clinically and genetically diverse group of diseases. To date, there are 30 different genes determined to cause LCA/SECORD, and these genes are thought to account for approximately 70-80% of the disease spectrum. In recent years, with the initial successful results reported in treatment with gene therapy, LCA/SECORD has become the focus of new researches. This review summarizes the genetic and pathophysiological basis, different genetic types and their clinical findings, diagnosis, differential diagnosis and current developments in the treatment of LCA/SECORD.