family 1002, direct genomic sequencing was performed on the amplified exon 4 fragment from the proband
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.