Seventy eyes (38 patients), of which 46 (66%) were female and 24 (34%) male, with RPE atrophy secondary to ABCA4 -related retinopathy (age [years], 45.51 ± 16.70; range 14–78) were included in the study ( Table 1 and see Table, Supplemental Digital Content 2 , http://links.lww.com/IAE/B170 , which shows the individual baseline and progression data of all included eyes).
Case#: Patient #32, male, 60yo at baseline visit, "late" age of onset
DiseaseAssertion: ABCA4-related retinopathy with secondary RPE atrophy
FamilyInfo: n/a
CasePresentingHPOs:
CaseHPOFreeText: Inclusion criteria were defined as 1) presence of at least one mutated allele in ABCA4 (NM_000350.2) in Sanger sequencing with multiplex ligation-dependent probe amplification analysis or next-generation sequencing 2) a compatible phenotype with flecks at the level of the RPE consistent with ABCA4 -related Stargardt disease 3) presence of RPE atrophy, and 4) serial examinations with an interval of at least 6 months. RPE atrophy to the end-stage (i.e., demarcated lesions with ≥90% darkness of the optic disc under short-wavelength excitation light, DDAF) that previously showed highest interreader agreement.7 The size of DDAF has to be at least 0.05 mm 2 (each single atrophic area in cases of multifocality), and the entire lesion must be completely visualized on the AF image at each visit to be advanced for analysis. Self-reported symptom onset into early-onset (≤10 years), intermediate-onset (11–44 years), and late-onset (≥45 years). ff-ERG based Category: Group 1 contained eyes with normal scotopic and photopic responses; Group 2, eyes with normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes; and Group 3, eyes with impairment of both rod- and cone-driven responses. BCVA: OD=0, OS=0 [LogMAR] .
CaseNotHPOs:
CaseNotHPOFreeText: Insufficient pupil dilation, additional retinal pathology, previous retinal treatment, or other ocular comorbidities substantially affecting image quality led to exclusion from the study
GenotypingMethod: Sanger sequencing with multiplex ligation-dependent probe amplification analysis or next-generation sequencing
PreviouslyPublished: n/a
Variant: allele 1: c.52C>T/p.(Arg18Trp) // c.1715G>A/p.(Arg572Gln) // c.2828G>A/p.(Arg943Gln) allele 2: c.1588G>A/p.(Gly863Ala) // c.5603A>T/p.(Asn1868Ile)
ClinVar: 7900
CAID: CA226918
SupplementalData: The supplemental table linked here contains genotype and phenotype information.