Case#: JU1426 (Family 10, II:3), Japanese male, 59 years (report)

CaseHPOsFreeText: Best-corrected visual acuity of zero in both eyes; fundus exam - inconspicuous, partial white dots at peripheral retina, and macular degeneration in both eyes; reduced fundus autofluorescence, and irregular autofluorescence around fovea in both eyes; Optical coherence tomography - diffuse disruption of ellipsoid zone and interdigitation zone with foveal sparing in both eyes; 30 min dark adapted ERG showed extinguished b-waves, and with dark adaptation of 2-3 hours there was partial recovery of b-waves.

CaseGenotypingMethod: WES

Variant: NM_002905.4:c.259C>T (p.Gln87Ter) homozygous

ClinVar: N/A

CAID: CA385200238

gnomAD: Not in gnomAD

CaseAddInfo: Estimated age (based on years of follow up)

Score: 2 points. This individual, with a diagnosis of fundus albipunctatus is homozygous for a nonsense variant in RDH5. This variant is absent in gnomAD.

Case#: Family 1002, Greek, 26 years, now living in USA.

CaseHPOs:

CaseHPOsFreeText: Difficulty adapting to the dark from early childhood. Fundus exam (see Fig 2A) at age 26 years showed yellow-white dots, sharply demarcated, sparing the macula and radiating from the perimacular region; well-defined foveal reflex, absent pigmentary changes, normal vascular caliber.

CaseNotHPOsFreeText: No other associated ocular or systemic disorders.

CasePreviousTesting: RBP3 excluded by heteroduplex analysis and sequencing (this study). Affected siblings had non-concordant pattern for an intragenic RFLP analyzed by Southern blot.

CaseMethod1: SSCP

CaseMethod2: Sanger sequencing

Variant: c.712G>T (p.Gly238Trp) (homozygous)

ClinVar: 8003

CAID: CA119196

gnomAD: The highest population MAF in gnomAD v2.1.1 is 0.0004532 (Latino/Admixed American); no homozygotes in any population.

CaseAddInfo: Parents are seventh cousins

Not scoring because another patients with this genotype has already been included.