TY - JOUR
T1 - Microcephaly with chorioretinal degeneration
AU - Atchaneeyasakul, La Ongsri
AU - Linck, Leesa
AU - Weleber, Richard G.
N1 - Funding Information:
Richard G. Weleber, M.D. Casey Eye Institute 3375 S.W. Terwilliger Blvd. Portland, OR 97201-4197 USA Tel: 503 494-8386 Fax: 503 494-6864 e-mail: weleberr@ohsu.edu Acknowledgements: This study was supported in part by a Center Grant from The Foundation Fighting Blindness, Inc., and an unrestricted grant from Research to Prevent Blindness.
PY - 1998
Y1 - 1998
N2 - Purpose: To describe the ophthalmologic findings and electroretinograms in patients with microcephaly and chorioretinal degeneration. Methods: We reviewed the hospital records of 20 patients with microcephaly that was not part of a recognizable syndrome prior to initial referral to the institutional consultative practice of one of the authors. Twelve patients, all from separate families, were diagnosed as having microcephaly with chorioretinopathy. Ten of these patients had ISCEV-standard electroretinograms (ERG). Results. No family history of microcephaly or retinal degeneration was found in any of our patients. Three patients had another family member with mental retardation. Three of the 12 were compatible with the autosomal dominant form of microcephaly with chorioretinopathy (MIM 156590), possibly as a new mutation. Eight patients, who had fundus findings of retinitis pigmentosa, were similar to the autosomal recessive form of microcephaly with chorioretinal degeneration (MIM 251270). The ERGs were moderately to severely subnormal for responses of both rods and cones. The retinal findings varied from no pigmentary changes, pigment clumping and bone spicules, pigmentary granularity, bull's eye maculopathy, choroidal and retinal atrophy, to lacunar depigmentation. Mental retardation was mild to profound. The abnormal findings from MRI/CT brain scans (8 patients) were cerebellar atrophy (2), agenesis of cerebellar vermis (1), cortical atrophy (1), and pachygyria (1). Dysmorphic features were present in most patients. Chromosome studies were normal, except for one patient with ring chromosome 14. Conclusions. Although the patients reviewed in this study represent a heterogeneous group of disorders, ocular abnormalities, especially retinal degeneration are frequent among patients with microcephaly.
AB - Purpose: To describe the ophthalmologic findings and electroretinograms in patients with microcephaly and chorioretinal degeneration. Methods: We reviewed the hospital records of 20 patients with microcephaly that was not part of a recognizable syndrome prior to initial referral to the institutional consultative practice of one of the authors. Twelve patients, all from separate families, were diagnosed as having microcephaly with chorioretinopathy. Ten of these patients had ISCEV-standard electroretinograms (ERG). Results. No family history of microcephaly or retinal degeneration was found in any of our patients. Three patients had another family member with mental retardation. Three of the 12 were compatible with the autosomal dominant form of microcephaly with chorioretinopathy (MIM 156590), possibly as a new mutation. Eight patients, who had fundus findings of retinitis pigmentosa, were similar to the autosomal recessive form of microcephaly with chorioretinal degeneration (MIM 251270). The ERGs were moderately to severely subnormal for responses of both rods and cones. The retinal findings varied from no pigmentary changes, pigment clumping and bone spicules, pigmentary granularity, bull's eye maculopathy, choroidal and retinal atrophy, to lacunar depigmentation. Mental retardation was mild to profound. The abnormal findings from MRI/CT brain scans (8 patients) were cerebellar atrophy (2), agenesis of cerebellar vermis (1), cortical atrophy (1), and pachygyria (1). Dysmorphic features were present in most patients. Chromosome studies were normal, except for one patient with ring chromosome 14. Conclusions. Although the patients reviewed in this study represent a heterogeneous group of disorders, ocular abnormalities, especially retinal degeneration are frequent among patients with microcephaly.
KW - Autosomal dominant inheritance
KW - Autosomal recessive inheritance
KW - Chorioretinal degeneration
KW - Microcephaly
KW - Retinitis pigmentosa
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U2 - 10.1076/opge.19.1.39.2178
DO - 10.1076/opge.19.1.39.2178
M3 - Article
C2 - 9587928
AN - SCOPUS:0031776621
SN - 0167-6784
VL - 19
SP - 39
EP - 48
JO - Ophthalmic Genetics
JF - Ophthalmic Genetics
IS - 1
ER -