Chromosome 16q12 duplication syndrome- MedGen UID:
- 1794292
- •Concept ID:
- C5562082
- •
- Disease or Syndrome
Chromosome 16q12 duplication syndrome is characterized by early-onset progressive cone dystrophy, with early blue cone involvement. Patients report reduced visual acuity in the first decade of life, as well as difficulty differentiating colors, photophobia, and reduced night vision (Kohl et al., 2021).
Tritanopia can also be caused by heterozygous mutation in the OPN1SW gene (613522) on chromosome 7q32 (see 190900).
Optic atrophy 16- MedGen UID:
- 1851641
- •Concept ID:
- C5882723
- •
- Disease or Syndrome
Optic atrophy-16 (OPA16) is an autosomal recessive disorder characterized by a Leber hereditary optic neuropathy (LHON)-like isolated optic neuropathy and mild sensorineural hearing impairment (Fiorini et al., 2023).
For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).