Table 1 Clinical phenotypes of affected individuals with homozygous TLCD3B pathogenic variants.
From: Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy
Affected individual | Age at diagnosis | Diagnosis | TLCD3B variant | Visual acuity (right) | Visual acuity (left) | Central vision loss | Additional notes |
|---|---|---|---|---|---|---|---|
A.II.1 | 16 | Maculopathy | c.166G>A p.Gly56Ser | 5/200 | 5/100 | + | Photophobia |
A.II.2 | 8 | Maculopathy | c.166G>A p.Gly56Ser | 5/100 | 5/100 | + | Photophobia |
B.II.1 | 24 | CRD | c.166G>A p.Gly56Ser | 5/60 | 5/60 | + | Photophobia |
C.IV.3 | 45 | CRD | c.234delG p.Gln79Asnfs*43 | 2/60 | 2/60 | + | Ishihara nil, photophobia |
