Preferred Label : Peripheral cone dystrophy;
Type : Phenotype or locus, molecular basis unknown;
Description : Kondo et al. (2004) studied 3 patients from 2 pedigrees with an unusual form of cone
dystrophy (see 180020) in which the peripheral cone system was more affected than
the central cone system, and whose rod system was relatively normal. The fundus examination
and fluorescein angiogram results were essentially normal except for mild temporal
pallor of the optic disc in 2 patients. The corrected visual acuity ranged from 20/16
to 20/100. Color vision was normal in 1 patient, but abnormal in 2 patients. A relative
paracentral scotoma was detected 2 patients (3 eyes). Full-field electroretinogram
(ERG) cone responses were reduced significantly, but rod responses were normal in
all patients, as in patients were typical cone dystrophy. However, the focal macular
cone ERGs were well preserved in all patients. Psychophysical rod-cone perimetry demonstrated
that the peripheral cone system was impaired, whereas the rod sensitivity was completely
normal. The results of the multifocal ERG in 2 patients supported the findings made
by the full-field and focal macular ERGs. These findings demonstrated that there was
a subgroup of patients with cone dystrophy in whom the peripheral cone system was
more affected than the central cone system. *FIELD* RF 1. Kondo, M.; Miyake, Y.; Kondo,
N.; Ueno, S.; Takakuwa, H.; Terasaki, H.: Peripheral cone dystrophy: a variant of
cone dystrophy with predominant dysfunction in the peripheral cone system. Ophthalmology
111: 732-739, 2004. *FIELD* CS Autosomal recessive;
Inheritance : Autosomal recessive;
Prefixed ID : %609021;
Origin ID : 609021;
UMLS CUI : C1836946;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
