Retinitis pigmentosa.
Hamel C.
Orphanet J Rare Dis. 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40.
Nosology of the syndrome of spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy.
Erdem E, Erbasp6, Varli K.
Am J Med Genet. 1994 Dec 1;53(4):393-4. doi: 10.1002/ajmg.1320530423.
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M, Capín R, Cifuentes GÁ, Fernández-Vega B, Villota E, Otero A, Santiago A, Pruneda PC, Castillo D, Viejo-Díaz M, Hernando I, Durán NS, Álvarez R, Lago CG, Ordóñez GR, Fernández-Vega Á, Cabanillas R, Cadiñanos J.
Acta Ophthalmol. 2020 Dec;98(8):e1034-e1048. doi: 10.1111/aos.14479. Epub 2020 Jun 1.
Emery-Dreifuss syndrome.
Emery AE.
J Med Genet. 1989 Oct;26(10):637-41. doi: 10.1136/jmg.26.10.637.
Oculopharyngeal muscular dystrophy.
Codère F.
Can J Ophthalmol. 1993 Feb;28(1):1-2.
[Syndromes with skin fragility].
Reimer A, Has C.
Hautarzt. 2019 Jul;70(7):481-489. doi: 10.1007/s00105-019-4433-5.
ROSAH syndrome mimicking chronic uveitis.
Fardeau C, Alafaleq M, Dhaenens CM, Dollfus H, Koné-Paut I, Grunewald O, Morel JB, Titah C, Saadoun D, Lazeran PO, Meunier I.
Clin Genet. 2023 Apr;103(4):453-458. doi: 10.1111/cge.14286. Epub 2022 Dec 30.
Reflex sympathetic dystrophy syndrome.
Kozin F.
Curr Opin Rheumatol. 1994 Mar;6(2):210-6. doi: 10.1097/00002281-199403000-00016.
Flecked retina disorders.
De Laey JJ.
Bull Soc Belge Ophtalmol. 1993;249:11-22.
Craniofacial dystrophy. A possible syndrome?
Mew M.
Br Dent J. 2014 May;216(10):555-8. doi: 10.1038/sj.bdj.2014.401.
