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Results for “Optic Atrophy”

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At least 361 records · Page 20Linked to original sources
PubMed1998

Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?

Two female sibs of first cousin Iranian parents were found to have the syndrome of spastic paraplegia, optic atrophy with poor vision, microcephaly, and normal cognitive development. Karyotype analysis showed a normal female constitution in one and a male constitution (46,XY) in the other. The XY female showed normal female external genitalia, normal uterus and tubes, and streak gonads. SRY gene sequencing was normal. We conclude that the present family probably represents a new autosomal recessive trait of pleiotropic effects including XY sex reversal and adds further evidence for the heterogeneity of spastic paraplegia syndromes as well as sex reversal syndromes.

Abnormalities, Multiple↗
PubMedDate not supplied

Diabetes mellitus, diabetes insipidus, optic atrophy and deafness (DIDMOAD syndrome).

Two patients with diabetes mellitus (DM), diabetes insipidus (DI), optic atrophy (OA), deafness (D) and dilatation of the urinary tract-the so-called DIDMOAD syndrome are presented. In one of the patients, the presenting components were DI and OA. In the second case, DM was the first manifestation to be diagnosed, and in this patient the course of the syndrome was complicated by associated epileptical activity disorders, and later septicemia. The admission of these patients led us to review the literature describing this syndrome.

Adolescent↗
PubMed1984

Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome.

Twenty-three members of a 96-member family exhibited an autosomal dominant disorder which has not previously been described. This disorder involves progressive optic atrophy, abnormal electroretinography without retinal pigment changes, and progressive sensorineural hearing loss usually evident in the first or second decade of life. In midlife, ptosis, ophthalmoplegia, dystaxia, and a nonspecific myopathy occur.

Adult↗
PubMed1991

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome).

We describe 14 patients, from 11 families, who have a progressive encephalopathy with early onset. The clinical signs of the disease are severe hypotonia, convulsions with hypsarrhythmia, profound mental retardation, hyperreflexia, transient or persistent edema, and optic atrophy. These findings and the characteristic dysmorphic features allow recognition of these patients, although no basic metabolic defect has been found. Microcephaly and atrophy of the brain develop, especially in the cerebellar and brain stem areas. An autosomal recessive mode of inheritance is likely.

Brain↗
PubMed2004

Dan zhi xiao yao yin combined with auricular-point-pressing for treatment of optic atrophy--a clinical observation of 51 cases.

To evaluate the therapeutic effect of Dan Zhi Xiao Yao Yin ([symbol: see text] Decoction of Moutan Bark and Capejasmine) combined with auricular-point-pressing therapy for treatment of optic atrophy. The visual acuity and visual field was observed in the 51 cases (58 eyes) from the treatment group that were treated with Dan Zhi Xiao Yao Yin combined with auricular-point-pressing therapy and the 43 cases (49 eyes) from the control group that were treated with routine western drugs at the end of the trial (60 days). The effective rates of increase in visual acuity obtained in the treatment and the control groups were 79.3% and 44.89% respectively and enlargement in visual field were 61.9% and 22.6% respectively. Statistical analysis showed that there were significant differences between two groups (P<0.05). The therapeutic effect of Dan Zhi Xiao Yao Yin combined with auricular-point -pressing therapy in increasing the visual acuity and enlarging the visual field was superior to that of the routine western drugs.

Acupressure↗
PubMed1980

Difficulties in diagnosing Leber's optic atrophy.

The lowered vision of a patient was attributed to an acute quinidine intoxication, although his condition differed from that of another patient with an acute quinine intoxication. Later, the uncle of the first patient showed lowered vision too, possibly due to a tobacco-alcohol neuropathy. Both uncle and nephew belonged to a family, in which Leber's hereditary optic atrophy occurred.

Adult↗
PubMed1999

Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?

We report on four children of both sexes from a highly inbred family with hypotonia, spastic diplegia, microcephaly, microphthalmia, congenital cataract, optic atrophy, ptosis, kyphoscoliosis, short stature, severe mental retardation, and cerebral malformations. Six other children may also have been affected. The differential diagnosis and the possibility of a second family with the micro syndrome are discussed.

Abnormalities, Multiple↗
PubMedDate not supplied

[Hereditary optic atrophy of the Kjer's type].

Kjer's disease is a benign form of hereditary optic nerve atrophy observed mainly in women. It starts in childhood and progresses slowly without leading to complete blindness. The inheritance is dominant. These features differentiate it from other known forms of hereditary optic nerve atrophy, that is Leber's and Behr's syndromes. The reported case was observed in a 21-year-old man whose mother, grandmother and great-grandmother had optic nerve atrophy. Since the age of 10 years the patient had visual acuity impairment progressing slowly. Examination demonstrated central scotoma, pallor of both optic discs particularly on the temporal side. After 10 years of the disease the visual acuity was 0.5 on the right and 0.3 on the left side. There was bilateral hearing impairment of high tones. The patient had no knee and ankle jerks. Differential diagnosis of Kjer's syndrome against other hereditary-degenerative diseases is discussed.

Abnormalities, Multiple↗
PubMed1964

OPTIC ATROPHY.

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Classification↗
PubMed2002

A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy.

We report the clinical findings and the diagnostic work-up of a 17-month-old girl with CDG-x. Predominant clinical signs were, besides psychomotor retardation and truncal hypotonia, stereotyped dystonic hand movements and ophthalmological abnormalities such as optic atrophy, nystagmus and strabismus. Other symptoms that are often found in patients with CDG were not present, such as seizures, microcephaly, cerebellar hypoplasia, dysmorphic features, hepatointestinal disease, coagulopathy or multiorgan involvement. Isoelectric focusing (IEF) of the patient's serum showed a marked elevation of disialotransferrin, thus confirming an IEF type 1 pattern. A generalized glycosylation defect was confirmed also by IEF of a further glycoprotein (alpha1-antitrypsin), an increased carbohydrate deficient transferrin (CDT) serum concentration and an increased CDT/transferrin ratio. All known types of CDG-I, secondary glycosylation abnormalities and variants of amino acid sequence were excluded.

Dystonia↗
PubMed1983

Multiple endocrine neoplasia, type I. Association with marfanoid habitus, optic atrophy, and other abnormalities.

A patient had a parathyroid adenoma and prolactin-secreting pituitary tumor, suggestive of the multiple endocrine neoplasia (MEN) I syndrome. The presence of a marfanoid habitus--found more typically in MEN III syndrome--as well as mitral valve prolapse, mental retardation, and bilateral optic atrophy suggests a new variant of the MEN syndrome, possibly representing widespread dysplasia of endocrine and other tissues.

Adenoma↗