Case#: Arno_2015_Family_GC17452_Patient_2, female, first seen at age 4 years, family origin not reported
CasePresentingHPOs: HP:0011003 (High myopia), HP:0000662 (Nyctalopia), HP:0030534 (Abnormal best corrected visual acuity test), HP:6001439 (Tigroid fundus), HP:0030602 (Abnormal fundus autofluorescence imaging, specifically patchy increased FAF in the vascular arcades), HP:0030603 (Abnormal optical coherence tomography, specifically showing loss of inner segment-ellipsoid over peripheral macular areas), HP:0008275 (Abnormal light-adapted electroretinogram, specifically showing delay and amplitude reduction of cone responses)
CaseHPOFreeText: BCVA was 0.550 / 0.575 logMAR (Snellen 20/80). FAF showed increased signal in vascular arcades, OCT showed loss of inner segment-ellipsoid over peripheral macular areas, ERG showed delay and amplitude reduction of cone responses. Overall phenotype was summarized as "high myopia and retinal dystrophy in childhood with no significant fundus changes".
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: Previous genotyping was by whole exome sequencing.
CaseMethod1: WES
CaseMethod2: Sanger sequencing of RBP3
CaseGenotypingMethod: Genotyping was performed by whole exome sequencing, followed by Sanger sequencing of RBP3.
Variant: The individual harbors the NM_002900.3(RBP3):c.3454G>T (p.Glu1152Ter) variant in the homozygous state.
CAID: CA376677245
gnomAD: The variant was not found in gnomAD version 4.1.1.
VariantEvidence: NM_002900.3(RBP3):c.3454G>T (p.Glu1152Ter) is a nonsense variant within exon 4 of 4 that is predicted not to trigger nonsense-mediated decay but rather to truncate the C-terminal 8% of the protein product.
CaseAddInfo: The proband comes from a consanguineous family with a similarly affected older sibling sharing the same homozygous genotype.
CasePMIDs: N/A