Journal
OPHTHALMIC GENETICS
Volume 42, Issue 5, Pages 521-532Publisher
TAYLOR & FRANCIS INC
DOI: 10.1080/13816810.2021.1923041
Keywords
Late-onset retinal degeneration; L-ORD; C1QTNF5; long aanteriorly insertedlens zonules; LAZ
Categories
Funding
- Ghent University Special Research Fund [BOF15/GOA/011]
- Ghent University Hospital
- Research Foundation Flanders [1802220N, 1803821N]
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Late-onset retinal degeneration (L-ORD) presents with three distinct initial fundus phenotypes, and the progression pace, as well as visual prognosis, varies depending on the phenotype, with type 2 showing a potentially more benign course.
Background: Late-onset retinal degeneration (L-ORD) is a rare autosomal dominant retinal dystrophy related to C1QTNF5 gene variants. Materials and methods: Twenty-six patients (21-81 years) with L-ORD due to c.562C>A p.(Pro188Thr) with a mean follow-up time of 8 years (range 1-37 years) underwent an extensive ophthalmic work-up. Results: Best-corrected visual acuity (BCVA) and visual fields were maintained up to 50 to 55 years (n = 8), with a gradual decline, but conservation of functional central vision between 55 to 65 years (n = 15), followed by a steep decrease in overall visual function beyond 65 years (n = 9). Classic anterior segment findings in L-ORD of abnormally long, anteriorly inserted lens zonules were absent in most patients (n = 24/26). In contrast, findings of iris transillumination and sphincter pupillae atrophy with poor dilation were novel. Patients presented with three completely different initial fundus phenotypes: adjoining pavingstone-like atrophic patches (type 1) (n = 6/20); tiny yellow-white subretinal dots (type 2) (n = 8/20); or larger yellow, thick, round sub-RPE drusenoid deposits (type 3) (n = 4/20). Two patients had a mixed phenotype. Although different in presentation phenotype, patients eventually all progressed to a common panretinal atrophy with diffuse intraretinal pigment migration beyond the age of 65. Progression pace, and thus visual prognosis, differed depending on presentation phenotype. Specifically, type 2 appears to have a more benign course. Conclusions: Phenotypic analysis showed three distinct presenting phenotypes with a considerable intrafamilial variability both in age of onset of clinical signs and in disease progression, with a fair visual potential (>20/40) until the seventh decade.
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