PMID- 23788369
OWN - NLM
STAT- MEDLINE
DCOM- 20130909
LR  - 20130715
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Linking)
VI  - 54
IP  - 7
DP  - 2013 Jul 12
TI  - Clinical characteristics of rod and cone photoreceptor dystrophies in patients 
      with mutations in the C8orf37 gene.
PG  - 4683-90
LID - 10.1167/iovs.12-11439 [doi]
AB  - PURPOSE: To provide the clinical features in patients with retinal disease caused 
      by C8orf37 gene mutations. METHODS: Eight patients--four diagnosed with retinitis 
      pigmentosa (RP) and four with cone-rod dystrophy (CRD), carrying causal C8orf37 
      mutations--were clinically evaluated, including extensive medical history taking, 
      slit-lamp biomicroscopy, ophthalmoscopy, kinetic perimetry, electroretinography 
      (ERG), spectral-domain optical coherence tomography (SD-OCT), autofluorescence 
      (AF) imaging, and fundus photography. RESULTS: In families A and D, respectively, 
      one and three patients showed a classic RP phenotype with night blindness 
      followed by concentric loss of visual field. Severe visual loss to light 
      perception occurred early in the course of the disease. The symptoms initiated 
      during infancy (family A) or adolescence (family D). Ophthalmoscopy revealed 
      macular atrophy, bone spicules, attenuated vessels, and waxy pale optic discs. 
      SD-OCT showed profound photoreceptor degeneration and AF demonstrated atrophy of 
      the retinal pigment epithelium (RPE). ERG responses were nonrecordable in these 
      patients. In families B and C, the patients were diagnosed with CRD. Initial 
      symptoms were photophobia or loss of visual acuity and occurred during infancy 
      (family B) or adolescence (family C). Ophthalmoscopy and AF revealed profound 
      macular RPE atrophy and SD-OCT demonstrated macular photoreceptor degeneration. 
      ERG responses were severely reduced in a cone-rod pattern or were nonrecordable. 
      Interestingly, both patients in family B demonstrated polydactyly. CONCLUSIONS: 
      Mutations in C8orf37 give rise to an early or adolescent-onset autosomal 
      recessive CRD or RP phenotype with early macular atrophy. The occurrence of 
      postaxial polydactyly in one family suggests a syndromic phenotype, which may 
      indicate C8orf37 has a ciliary function.
FAU - van Huet, Ramon A C
AU  - van Huet RA
AD  - Department of Ophthalmology, Radboud University Nijmegen Medical Centre, 
      Nijmegen, The Netherlands.
FAU - Estrada-Cuzcano, Alejandro
AU  - Estrada-Cuzcano A
FAU - Banin, Eyal
AU  - Banin E
FAU - Rotenstreich, Ygal
AU  - Rotenstreich Y
FAU - Hipp, Stephanie
AU  - Hipp S
FAU - Kohl, Susanne
AU  - Kohl S
FAU - Hoyng, Carel B
AU  - Hoyng CB
FAU - den Hollander, Anneke I
AU  - den Hollander AI
FAU - Collin, Rob W J
AU  - Collin RW
FAU - Klevering, B Jeroen
AU  - Klevering BJ
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20130712
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (C8orf37 protein, human)
RN  - 0 (Proteins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - Electroretinography
MH  - Female
MH  - Humans
MH  - Infant
MH  - Male
MH  - *Mutation
MH  - Phenotype
MH  - Proteins/*genetics
MH  - Retinitis Pigmentosa/*genetics/pathology/physiopathology
MH  - Visual Acuity/physiology
MH  - Visual Fields/physiology
MH  - Young Adult
OTO - NOTNLM
OT  - C8orf37
OT  - clinical characteristics
OT  - cone-rod dystrophy
OT  - retinitis pigmentosa
EDAT- 2013/06/22 06:00
MHDA- 2013/09/10 06:00
CRDT- 2013/06/22 06:00
PHST- 2013/06/22 06:00 [entrez]
PHST- 2013/06/22 06:00 [pubmed]
PHST- 2013/09/10 06:00 [medline]
AID - iovs.12-11439 [pii]
AID - 10.1167/iovs.12-11439 [doi]
PST - epublish
SO  - Invest Ophthalmol Vis Sci. 2013 Jul 12;54(7):4683-90. doi: 10.1167/iovs.12-11439.