Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.
OBJECTIVE
To investigate in vivo the retinal microstructure in X-linked retinitis pigmentosa (XLRP) caused by RPGR mutations as a prelude to treatment initiatives for this common form of RP.


METHODS
Patients with RPGR-XLRP (n = 12; age range, 10-56 years) were studied by optical coherence tomography (OCT) in a wide region of central retina. Overall retinal thickness and outer nuclear layer (ONL) and inner retinal parameters across horizontal and vertical meridians were analyzed and compared.


RESULTS
Retinal architecture of all patients with RPGR mutations was abnormal. At the fovea in younger patients, the ONL could be normal; but, at increasing eccentricities, there was a loss of photoreceptor laminar structure, even at the youngest ages studied. At later ages and advanced disease stages, the ONL was thin and reduced in extent. Inner retinal thickness, in contrast, was normal or hyperthick. Inner retinal thickening was detectable at all ages studied and was strongly associated with ONL loss.


CONCLUSIONS
Inner retinal laminar abnormalities in RPGR-XLRP are likely to reflect a neuronal-glial retinal remodeling response to photoreceptor loss and are detectable relatively early in the disease course. These results should be factored into emerging therapeutic strategies for this form of RP.
Aleman
Tomas S
TS
Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Cideciyan
Artur V
AV
Sumaroka
Alexander
A
Schwartz
Sharon B
SB
Roman
Alejandro J
AJ
Windsor
Elizabeth A M
EA
Steinberg
Janet D
JD
Branham
Kari
K
Othman
Mohammad
M
Swaroop
Anand
A
Jacobson
Samuel G
SG
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005136:Eye Proteins / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D009457:Neuroglia / Q000473:pathology; D009474:Neurons / Q000473:pathology; D012160:Retina / Q000473:pathology*; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics; D041623:Tomography, Optical Coherence
D005136:Eye Proteins; C099929:RPGR protein, human