Br J Ophthalmol 1999;83:190-193 ( February )
Cone and rod dysfunction in the NARP syndrome
Itay Chowers,a
Tally Lerman-Sagie,b
Orly N Elpeleg,c
Avraham Shaag,c
Saul Merina
a Department of
Ophthalmology, Hadassah University Hospital and Hebrew
University-Hadassah Medical School, Jerusalem, Israel, b The Pediatric Neurology Unit,
Wolfson Medical Center, and Sackler School of Medicine, Tel-Aviv
University, Tel-Aviv, Israel, c Metabolic Disease Unit, Shaare-Zedek Medical
Center, Jerusalem, Israel
Correspondence to: Itay Chowers, MD, Department of
Ophthalmology, Hadassah University Hospital, PO Box 12000, Jerusalem
91120, Israel.
Accepted for publication 30 July 1998
AIMS
Description of
the ophthalmic manifestations of the NARP (neuropathy, ataxia,
retinitis pigmentosa) syndrome that is associated with a point mutation
in position 8993 of the mitochondrial DNA (mtDNA).
METHODSA mother and
her two children, all carrying the 8993 mtDNA mutation, were examined.
Two had manifestations of the NARP syndrome. A complete ocular and
systemic examination was performed on all three patients.
RESULTSThe clinical
examination, electroretinogram, and visual fields revealed a typical
cone-rod dystrophy in the son, and a typical cone dystrophy in the
daughter. The mother had no ocular manifestations of the disease.
CONCLUSIONSNARP is a
recently described, maternally inherited mitochondrial syndrome in
which a retinal dystrophy, among other abnormalities, is related to a
mutation of the mtDNA at nucleotide 8993. This study demonstrates the
great variability of the ocular manifestations in the NARP syndrome. It
also indicates that the retinal dystrophy in at least some NARP
patients affects primarily the cones.
Keywords:
NARP syndrome;
mitochondrial
DNA;
pigmentary retinopathy
© 1999 by British Journal of Ophthalmology
