Case#: a 45-year-old man from Sardinia, Italy

DiseaseAssertion: Cone rod dystrophy

FamilyInfo: Five members, this patient is the only one affected by CRD

CasePresentingHPOs: HP:0000505, HP:0007663, HP:0000603, HP:0001123, HP:0000608, HP:0007401, HP:0011504, HP:0000548, HP:0030329, HP:0000543

CaseHPOFreeText: 1998: Subacute central vision loss in both eyes, choroidal and RPE atrophy surrounding left fovea and small white patches of atrophy around right fovea. Pale appearance of optic disc in both eyes. Punctate retinal pigment epitheliopathy observed bilaterally in midperipheral retina, hyperfluorescent macular regions suggesting bull's eye maculopathy. Paracentral ring scotoma, surrounded by a relative annular scotoma, early and predominant involvement of photopic over scotopic responses; 2018: BCVA was bilateral light perception with visual field extinction. FAF showed a central round area of decreased autofluorescence corresponding to area of macular atrophy, surrounded by an area of relatively increased autofluorescence. Several roundish areas of reduced autofluorescence in midperipheral retina. Severe macular atrophy surrounded by a ring of preserved RPE in both eyes. Sparse pigmentary deposits in midperipheral retina of both eyes. Severe bilateral retinal thinning with disappearance of external retinal layers. Outer retina tubulations

CaseNotHPOs: HP:0025148

CaseNotHPOFreeText: No pigment deposits on optic disc, no dark choroid

Genotyping Method: Candidate gene approach on ABCA4 followed by whole exome sequencing

PreviouslyPublished: NR

Variant: NM_000350, c.4535C>G, p.P1512R

ClinVar: 99291

CAID: CA227203

SupplementalData: Patient's healthy brother showed the same molecular condition for ABCA4. Patient also has 2 novel frameshift mutations in C2orf71.