Retinitis pigmentosa

Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


Total: 4

                       


(per page)
PMID (PMCID)
11169562
 MIXED_SAMPLE Adult
Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers.
Megarbane A, Waked N, Chouery E, Moglabey YB, Saliba N, Mornet E, Serre JL, Slim R.
Am J Med Genet. 2001;98(3):244-9.
Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers.
10392752
 MIXED_SAMPLE Child
Merosin-positive congenital muscular dystrophy in two siblings with cataract and slight mental retardation.
Reed UC, Tsanaclis AM, Vainzof M, Marie SK, Carvalho MS, Roizenblatt J, Pedreira CC, Diament A, Levy JA.
Brain Dev. 1999;21(4):274-8.
We report on two siblings that have been followed for 14 years, with merosin-positive congenital muscular dystrophy (CMD), cataract, retinitis pigmentosa, dysversion of the optic disc, but no cerebral anomalies, except for microcephaly and slight mental retardation (MR).
7749665
 MIXED_SAMPLE Infant
Sutural cataract, retinitis pigmentosa, microcephaly and psychomotor retardation. A new autosomal recessive disorder?
Ippel PF, Wittebol-Post D, van Nesselrooij BP, Bijlsma JB.
Ophthalmic Genet. 1994;15(3-4):121-7.
We report four children (three sibs and one sporadic case) with congenital sutural cataract (opacity of the sutures of the crystalline lens), retinitis pigmentosa (leading to diminished visual acuity), microcephaly, and moderate to severe psychomotor retardation.
7749665
 MIXED_SAMPLE Infant
Sutural cataract, retinitis pigmentosa, microcephaly and psychomotor retardation. A new autosomal recessive disorder?
Ippel PF, Wittebol-Post D, van Nesselrooij BP, Bijlsma JB.
Ophthalmic Genet. 1994;15(3-4):121-7.
Sutural cataract, retinitis pigmentosa, microcephaly and psychomotor retardation.