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Purpose: To present a semi-automated method of image alignment to aid in monitoring the progression of inherited retinal degenerations (IRDs)., Results: A 22-year-old woman presented with nyctalopia and a family history of retinitis pigmentosa (RP), but with no prior genetic testing. Fundus examination showed a sectoral retinal degeneration involving the inferior and nasal retina with rare, pigmented deposits. Goldmann kinetic perimetry demonstrated corresponding superotemporal visual field defects. The best-corrected visual acuity was 20/20 in both eyes. Multimodal imaging delineated geographically restricted peripheral retinal degeneration extending to the inferior edge of the macula. Central visual function remained intact with normal multifocal electroretinography findings. Optical coherence tomography (OCT) through the leading edge of the retinal degeneration confirmed loss of the photoreceptor layer and associated retinal pigment epithelium. In the region of retinal degeneration, loss of vascular flow density was noted on optical coherence tomography angiography (OCTA). Genetic testing identified a pathologic sequence variant in RHO (c.68C>A, p.Pro23His), confirming autosomal dominant sector retinitis pigmentosa (SRP). Image alignment allowed for precise measurement of the progression of SRP over a period of 18 months., Conclusion: SRP is a rare subtype of RP characterized by focal, typically inferior and nasal, retinal degeneration of the peripheral retina. Although the onset and extent of peripheral retinal degeneration varies, compared with RP, SRP typically progresses more slowly to involve the macula. In this report, we highlight the utility of image registration and alignment to aid in monitoring disease progression in IRDs by means of multimodal imaging.

Purpose: To describe an atypical phenotypic pattern of late-onset retinitis pigmentosa (RP) due to the same specific c.425A>G (p.Tyr142Cys) heterozygous mutation in the cone–rod homeobox gene (CRX gene) in two unrelated Italian patients. Case 1: A 67-year-old woman (P.P.) was incidentally diagnosed with sector RP at the age of 50. The patient was initially asymptomatic and did not have any family history of retinal dystrophy. Fundus examination showed the presence of typical retinal pigmentary deposits with a peculiar pericentral/sector distribution. Genomic sequencing disclosed the missense mutation c.425A>G (p.Tyr142Cys) in the CRX gene. During the follow-up period of 7 years, the patient maintained good visual acuity and complained only of mild symptoms. Case 2: A 76-year-old man (P.E.) presented with nyctalopia and visual field constriction since the age of 50. Fundus examination showed the presence of retinal pigment deposits with a concentric pericentral and perimacular pattern. A full-field electroretinogram (ffERG) showed extinguished scotopic responses and reduced abnormal photopic and flicker cone responses. Genomic sequencing identified the same missense mutation, c.425A>G (p.Tyr142Cys), in the CRX gene. Similarly to the first case, during the whole follow-up of 7 years, the visual acuity remained stable, as did the visual field and the patient's symptoms. Conclusions: We report the first cases of late-onset retinitis pigmentosa related to a specific heterozygous CRX gene mutation in exon 4. We also report two atypical phenotypic RP patterns related to mutations in the CRX gene. [ABSTRACT FROM AUTHOR]

Mutations in rhodopsin gene (RHO) are a frequent cause of retinitis pigmentosa (RP) and less often, congenital stationary night blindness (CSNB). Mutation p.G90D has previously been associated with CSNB based on the examination of one family. This study screened 60 patients. Out of these 60 patients, 32 were affected and a full characterization was conducted in 15 patients. We described the clinical characteristics of these 15 patients (12 male, median age 42 years, range 8–71) from three families including visual field (Campus Goldmann), fundus autofluorescence (FAF), optical coherence tomography (OCT) and electrophysiology. Phenotypes were classified into four categories: CSNB (N = 3, 20%) sector RP (N = 3, 20%), pericentral RP (N = 1, 6.7%) and classic RP (N = 8, 53.3% (8/15)). The phenotypes were not associated with family, sex or age (Kruskal–Wallis, p > 0.05), however, cystoid macular edema (CME) was observed only in one family. Among the subjects reporting nyctalopia, 69% (22/32) were male. The clinical characteristics of the largest p.G90D cohort so far showed a large frequency of progressive retinal degeneration with 53.3% developing RP, contrary to the previous report. [ABSTRACT FROM AUTHOR]