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Purpose Alström syndrome (AS) is a rare monogenic autosomal recessively inherited disorder characterized by cone rod dystrophy and multiple organ dysfunction. Mutations in the Alström syndrome 1 (ALMS1) gene have been found to be causative for AS. The purpose of this study was to identify ALMS1 mutations and to assess the clinical features of Chinese patients with AS. Methods Detailed ocular and laboratory examinations were performed. Peripheral blood samples were collected from patients and their parents. Genomic DNA was extracted with a Qiagen kit. Exons and exon/intron junctions of ALMS1 were amplified with polymerase chain reaction (PCR) and screened for mutations with Sanger sequencing. The results were compared with the ALMS1 transcript to exclude polymorphisms and confirm pathogenic mutations. Results Seven patients from five unrelated non-consanguineous families were diagnosed with AS. All patients had cone rod dystrophy with impaired visual acuity, photophobia, and nystagmus. Other clinical features, including sensorineural hearing loss, truncal obesity, insulin resistance, type 2 diabetes mellitus, renal and hepatic dysfunction, hyperlipidemia, hypothyroidism, mental retardation, acanthosis nigricans, and scoliosis, were present. Sequencing revealed two novel mutations, p.N3150Kfs2X and p.V3154Xfs, in patient 1; one novel mutation, p.N3672Ifs11X, and one previously reported nonsense mutation, p.R3703X, in patient 2; novel mutations p.S2479X and p.R3611Efs7X in patient 3; one novel homozygous mutation, p.S695X, in patients 4 and 5; and two novel mutations, p.H688HfsX and p.Q3147Qfs2X, in patients 6 and 7. These mutations were not present in 100 unrelated healthy Chinese control subjects. The patients’ parents were heterozygous carriers of the mutant allele. Conclusions Seven Chinese patients with AS showed typical ophthalmic features and multiple organ dysfunction. Novel loss of function mutations in the ALMS1 gene are the underlying genetic defects.

Purpose To describe an unusual ocular phenotype in a Chinese female patient with X-linked Alport syndrome (XLAS), and to characterize the type IV collagen alpha 5 (COL4A5) gene mutation in the patient and her son. Methods Detailed ophthalmologic examinations and optical coherence tomography were performed in the patient and her family members. For gene analysis of COL4A5, the entire coding region of COL4A5 mRNA from cultured skin fibroblast was analyzed by using reverse-transcription-polymerase chain reaction (RT–PCR) and direct sequencing, and genomic DNA was analyzed by using PCR and direct sequencing. Results The patient presented with progressive myopia at age 14 and bilateral giant macular holes (about 2 disc diameter) at age 28. At age 33 when presented to our hospital, slit lamp examination of the anterior segment showed bilateral anterior and posterior lenticonus; fundus photography and optical coherence tomography showed bilateral giant macular holes which were larger than photographed at age 28. Electron microscopy of renal biopsy showed irregular thinned and thickened areas of the glomerular basement membrane with splitting of the lamina densa. Her son was then found to have hematuria (at age 3), and indirect immunofluorescence of the epidermal basement membrane showed negative staining for the collagen α5(IV) chain. However, the ophthalmological examinations of her son were unremarkable. A novel COL4A5 mutation g. 4400_4400+1del, leading to an indel in exon 45 (r. 4198delins4198+2_ 4198+72), was detected in the patient and her son. This mutation produces a shift in the reading frame, resulting in a missense sequence of 13 codons followed by a premature stop codon. Her mother was not affected with the mutation. Conclusions Our report extends the phenotypic and genotypic spectrum of X-linked Alport syndrome.

Purpose To report a case in which silicone oil in the eye migrated into the cerebral ventricles and the subarachnoid space. Design Observational case report. Methods A 62-year-old woman presented with proliferative diabetic retinopathy and tractive retinal detachment in her left eye. Par plana vitrectomy and injection of 5,000-centistoke-viscosity silicone oil were performed. Intraocular pressure was elevated after the operation and poorly controlled for 4 months. Eight months after the first operation, the patient felt dizzy. Computed tomography (CT), magnetic resonance imaging (MRI), and optical coherence tomography (OCT) scanning were performed. Results The CT imaging, MRI, and OCT showed silicone oils migrated into the sella cistena superioris and the cerebral ventricles. Follow-up examination was continued. Conclusion Although silicone oil migrating into the ventricles is unusual, we suggest that every patient undergoing silicone oil tamponade with poorly controlled high intraocular pressure and optic disk atrophy should be carefully evaluated.

Purpose To access the efficacy of surgical treatment for premacular membranes in four children. Design Interventional case series. Methods Premacular membranes in four children were observed. Initial visual acuity ranged from 0.08 to 0.4. The premacular membranes were approximately 1/3 PD to 4 PD in size, and the center of them was located at the fovea in all the patients. Vitreous surgeries were performed in all four patients. The membranes were removed successfully without complications. Occlusion therapy was performed one month after the operation. Follow-up was from 6 to 16 months (means 8.3 months). Results Vision eventually improved in all patients. Final vision acuity ranged from 0.2 to 1.0. Conclusions Vitreous surgeries may be safe and effective in children with premacular membrances.

The purpose of this study was to evaluate the surgical outcome of combined hamartomas of the retina and retinal pigment epithelium in five patients.In this interventional retrospective case series study, five patients with combined hamartomas of the retina and retinal pigment epithelium received vitrectomy and epiretinal component peeling. Pre- and postoperative best-corrected visual acuity, fundus examination, photography and fundus fluorescein angiography, optical coherence tomography, and B-ultrasound scan examination were analyzed.The 5 patients were all men, ranging in age from 6 years to 21 years (mean 12.6 +/- 6.5 years). The lesions were unilateral. Preoperative best-corrected visual acuity ranged from 20/340 to 20/50 (median 20/200), and postoperative best-corrected visual acuity ranged from 20/340 to 20/30 (median 20/100). Best-corrected visual acuity improved in 3 patients (60%) after the surgeries and remained unchanged in 2 patients. Epiretinal components were completely removed, except for a small residual membrane left in two cases. Tortuosity of the retinal vessels improved in all the cases after the surgeries. Fundus fluorescein angiography showed reduction in vascular tortuosity and decrease of dye leakage. Optical coherence tomography demonstrated disappearance or reduction of high reflectivity of the inner retina and decrease of underlying retina edema. In two cases, the only complication was temporary ocular hypertension.Selected patients with combined hamartomas of the retina and retinal pigment epithelium may benefit from surgical management at the appropriate time.