Retinitis pigmentosa 13- MedGen UID:
- 325486
- •Concept ID:
- C1838702
- •
- Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene.
Multiple epiphyseal dysplasia, Beighton type- MedGen UID:
- 377049
- •Concept ID:
- C1851536
- •
- Disease or Syndrome
A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia, visual impairment (with early-onset progressive myopia, retinal thinning, and cataracts), and conductive hearing loss. Patients are of short stature and present brachydactyly, genu valgus deformity, and joint pain.
Leber congenital amaurosis 6- MedGen UID:
- 344245
- •Concept ID:
- C1854260
- •
- Congenital Abnormality
Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009).
For a general description and a discussion of genetic heterogeneity of LCA, see 204000.
Retinitis pigmentosa 83- MedGen UID:
- 1648404
- •Concept ID:
- C4748536
- •
- Disease or Syndrome
Retinitis pigmentosa-83 (RP83) is characterized by onset of night blindness in the first decade of life, with decreased central vision in the second decade of life in association with retinal degeneration. The retinal dystrophy is associated with cataract, and macular edema has also been reported in some patients (Holtan et al., 2019).