X pigmentosa

The X-linked form of retinitis pigmentosa is also called choroidoretinal degeneration, or pigmentary retinopathy. The gyrate choroidal atrophy described by Waardenburg (2025) as X-linked was found on further study to be retinitis pigmentosa (Waardenburg et al, 2025).As pointed out in a review by Jacobson and Stephens (2025), there are some phenotypic differences

In families with the X-linked type, only males are affected, while females carry the genetic trait but do not experience serious vision loss. Additional Resources for Retinitis Pigmentosa. MedlinePlus: Retinitis Pigmentosa. NEI: Retinitis Pigmentosa. GARD: Retinitis Pigmentosa. Genetics Home Reference: Retinitis Pigmentosa. Foundation Fighting

X-Linked Retinitis Pigmentosa (XLRP): A genetic eye disorder that causes progressive vision loss, primarily affecting males due to mutations on the X chromosome. RPGR gene : The Retinitis Pigmentosa GTPase Regulator gene, which when mutated, can cause X-linked Retinitis Pigmentosa.

X-linked retinitis pigmentosa caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene is the most common form of recessive RP. The phenotype is characterised by its severity and rapid

An evaluation of 56 patients with X-linked retinitis pigmentosa revealed a profile of findings that include night blindness within the first two decades of life, characteristic patterns of field loss, and nondetectable electroretinographic amplitudes in more than two thirds of the patients. An evaluation of 56 patients with X-linked retinitis pigmentosa revealed a profile of findings that

Mutations in more than 100 genes may be responsible for retinitis pigmentosa but sporadic disease occurs as well. Between % of individuals have X-linked disease. In this form of X-linked retinitis pigmentosa mutations in RP2 (Xp11.3) have been found. The frequent occurrence of mild disease in females can cause diagnostic confusion with

Findings In this post hoc analysis of 18 participants in the Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa Using BIIB112 (XIRIUS) study and 103 participants in the Natural History of the Progression of X-Linked Retinitis Pigmentosa (XOLARIS) trial, early and sustained improvements in visual function were associated

X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.

Gerald Fishman is an Ophthalmologist in Chicago, Illinois. Dr. Fishman and is rated as an Advanced provider by MediFind in the treatment of Retinitis Pigmentosa. His top areas of expertise are X-Linked Retinitis Pigmentosa (XLRP), Retinitis Pigmentosa, Cone Dystrophy, and Usher Syndrome Type 2A.