Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The eye symptoms in dysostosis craniofacialis Crouzon can be divided into obligate and facultative signs; the latter are nystagmus, megalocornea, coloboma of the iris, corectopia, ectopia of the lens and cataract. There is no causal relationship between these symptoms and the dysostosis craniofacialis. The common eye findings in this disease use proptosis, divergent strabism, hypertelorism with dystopia canthi lateralis as well as in about 80% an atrophy of the optic nerve. It is considered until now that the premature synostosis of cranial sutures is the leading and only pathogenetical factor in this disease. This theory can no longer be sustained because of its inability to explain the above mentionned eye findings. We want to stress on a malformation of the prosencephalic head organisator leading to a dyschondroplasia that mainly affects the base of the skull. This frontal dysplasia causes a characteristic displacement of the building materials and thereby produces the common eye findings in this disease.
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PMID:[The development of eye symptoms in dysostosis craniofacialis Crouzon--a contribution to pathogenesis (author's transl)]. 719 65

Thirteen affected Japanese male patients and 13 female carriers with X linked ocular albinism from seven families were examined to assess their clinical findings and to compare them with those of white and black patients. Affected Japanese patients had poor visual acuity, horizontal nystagmus, macular hypoplasia, and loss of stereopsis. Some affected patients had non-albinotic fundus with moderate pigmentation. The amount of pigment in the fundus varied among affected patients and appeared to be between that of the white and black patients. All affected patients had brown irides that show no translucency. Interestingly, two affected patients had megalocornea and a third affected patient had posterior embryotoxon. All female carriers exhibited good visual acuity, normal eye position, stereopsis, brown irides without translucency, and the typical mosaic pattern in the fundus. The pigmented iris and fundus made the correct diagnosis of these affected patients difficult. Nine affected patients (70%) had been diagnosed initially as having congenital nystagmus, with or without macular hypoplasia, until they were reviewed for this study.
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PMID:X linked ocular albinism in Japanese patients. 769 33

We describe the ocular features of the chromosome 22q11.2 duplication syndrome and provide ophthalmologic examination recommendations for affected patients. The medical records of 19 children with chromosome 22q11.2 duplication who had undergone complete ophthalmological examination, including dilated fundus examination and cycloplegic refraction, were studied retrospectively. Over half of the children with 22q11.2 duplication syndrome were found to have visually significant ocular abnormalities, including 6 with strabismus, 2 with moderately high astigmatism requiring glasses, 1 with unilateral congenital cataract requiring surgery, 1 with optic disk drusen, 1 with bilateral megalocornea with normal eye pressures, 1 with nystagmus that resolved spontaneously, and 1 with delayed visual maturation. Because of the high incidence of conditions that could affect visual development, we recommend that children with 22q11.2 duplication syndrome have a complete ophthalmological examination on diagnosis and regular vision screenings by their primary care physician thereafter.
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PMID:Ocular findings associated with chromosome 22q11.2 duplication. 2710 43

Arnold Chiari malformation type 1 is defined as a herniation of the cerebellar tonsils into the foramen magnum of more than 5 mm. Symptoms are most commonly dominated by occipital headache, torticollis and sometimes swallowing disorders. Ophthalmologically abnormal convergences, oculomotor palsy and diplopia are the main clinical signs. We report the case of a 9 year old child, who presented with visual loss evolving since 6 months. Ophthalmologic examination showed visual acuity of 4/10 in both eyes, retained ocular motility and rotational nystagmus. The examination of the anterior segment of the eye showed megalocornea with no evidence of goniodysgenesis, iridodonesis associated with atrophy of the dilator muscle and microcoria with lazy photomotor reflex. Normal intraocular pressure was 14 mmHg. Ocular fundus examination, despite difficulties in performing it, objectified bilateral papilledema (stage II). General physical examination showed torticollis, scoliosis and a tetra-pyramidal syndrome. MRI showed Chiari malformation type I associated with hydrocephalus and syringomyelia. Neurosurgical intervention based on internal CSF drainage with occipitocervical osteo-dural decompression was proposed. The evolution was favorable with regression of clinical signs. Ophthalmologically, there was a regression of papilledema but visual acuity remained stationary. The occurrence of papilledema associated with Chiari malformation type 1 is rare, it has been only reported in 2% of symptomatic patients. Its pathophysiology is still poorly understood. The originality of our study consists in the association of cerebellar malformations with ocular malformations including megalocornea and microcoria which make ophthalmologic examination more difficult to perform.
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PMID:[Papillary oedema revealing Arnold Chiari malformation type 1: about a case]. 2815 48