Hereditary spastic ataxia with congenital miosis: four cases in one family.

Dick, D J; Newman, Peter; Cleland, P. G.

doi:10.1136/bjo.67.2.97

Cited by 15 publications

(6 citation statements)

References 21 publications

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“…The miosis presents itself as a marked dysfunction of dilator pupillae. Hereditary miosis is an extremely rare occurrence (Polomeno & Milot 1979, Dick et al 1983). Although not verified through biopsy, which would be unethical in our patients because of the tendency to bleeding, it is assumed that the dilator muscle is anatomically absent or grossly reduced.…”

Section: The Red Cell Abnormality and Aspleniamentioning

confidence: 99%

A new syndrome: thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis

Stormorken

Sjaastad²,

Langslet

et al. 1985

Clinical Genetics

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A new multifacetted syndrome inherited as an autosomal, dominant trait is described encompassing not only two hitherto undescribed hereditary defects ‐ thrombocytopathia and asplenia ‐ but also muscle contractile defect, migraine‐like headache, miosis, dyslexia and ichthyosis. None of these defects has so far been assigned to a specific chromosome or linkage group. Further studies on the various aspects of the syndrome are in progress.

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Section: The Red Cell Abnormality and Aspleniamentioning

confidence: 99%

A new syndrome: thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis

Stormorken

Sjaastad²,

Langslet

et al. 1985

Clinical Genetics

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“…Linkage analysis in French and Indian pedigrees indicated that the responsible gene is located in the chromosomal locus 13q31–q32, but up to date, no responsible gene has been identified; however, the transmission is autosomal dominant [2, 7]. Some ocular, neurological or kidney associations have been reported such as goniodysgenesis [8], ataxia [9] or nephrosis [10], respectively, but none of those were present in our patients. They usually require optical correction only, but visual acuity deteriorates with a subtle nuclear sclerosis, and may need surgical treatment, with different approaches described, including cataract surgery and optical iridectomy to improve the symptoms [6].…”

Section: Discussionmentioning

confidence: 62%

Ultrabiomicroscopic-Histopathologic Correlations in Individuals with Autosomal Dominant Congenital Microcoria: Three-Generation Family Report

Ramírez-Miranda¹,

Paulin-Huerta²,

Chávez-Mondragón³

et al. 2011

Case Rep Ophthalmol

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Background: Congenital microcoria (CMC) is due to a maldevelopment of the dilator pupillae muscle of the iris, with a pupil diameter of less than 2 mm. It is associated with juvenile open angle glaucoma and myopia. We report on a three-generation Mexican-Mestizo family with CMC. The eldest member’s iris biopsy proved muscle anomalies. Further, we analyzed novel ultrasound biomicroscopy findings in the family members who did not require surgery. Patients and Methods: A 62-year-old woman, her 41-year-old son and her 9-year-old grandson affected with microcoria since birth, documented by clinical examination and ultrasound biomicroscopy. The eldest member underwent phacoemulsification, and a biopsy of the iris and the anterior capsule of the lens was taken. Results: Ultrasound biomicroscopy confirmed the CMC diagnosis showing iris thinning and a pupil diameter of less than 2 mm. Histopathology of the iris showed a significant reduction of smooth muscle cells, but no alterations of the anterior lens capsule. Discussion: Although CMC is a rare disorder, which is due to a maldevelopment of the dilator pupillae muscle of the iris, it could be associated with juvenile open angle glaucoma and myopia; therefore, precise diagnosis is required. Ultrasound biomicroscopy could be a great option to confirm the disorder.

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“…It may exist in a rather monosymptomatic form, as apparently in e.g. Holth & Berner's case (1921), or it may be combined with various other neurological symptoms and signs, such as spastic ataxia (of the Sanger Brown type) and nystagmus (Dick et al 1983). In the present context, congenital miosis is an integral feature of a syndrome with a wide spectrum of symptoms and signs (Stormorken et al 1985).…”

Section: Discussionmentioning

confidence: 95%

A new hereditary syndrome with a bleeding tendency, extreme miosis, spasms, dyslexia, thrombocytopathia etc.

Sjaastad

Aasly

Stormorken

et al. 1992

Acta Ophthalmologica

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A recently described familiar syndrome consists of the following components: A bleeding tendency with thrombocytopathia, miosis, muscular weakness and spasms, ichthyosis, asplenia, dyslexia, and headache. Four definite and 2 probable patients have been identified in 4 generations. In the present study, the pupillary behaviour was scrutinized in two 'definite' cases with the infrared, binocular pupillometer. The forehead sweating pattern was also investigated with an Evaporimeter. The basal pupillary widths were: 1.25-1.75 mm. Only minor responses were noted upon topical stimulation with an indirectly acting pupillodilating agent (OH-amphetamine). A directly acting sympathicomimetic drug (phenylephrine) exerted a more marked influence on the pupil, indicating a relative supersensitivity. The evaporimetric pattern in the forehead seemed to be within reference limits, at variance with what is the case in Horner's syndrome. Further findings were: the orbit seemed to be smaller than normal; a bilateral VI. cranial nerve palsy was identified, and a marked upward gaze palsy coexisted with pupils with Argyll Robertson's traits. There is no readily acceptable explanation for the ocular abnormalities. The disorder underlying the pupillary abnormality may possibly be located in the upper mesencephalon.

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Hereditary spastic ataxia with congenital miosis: four cases in one family.

Cited by 15 publications

References 21 publications

A new syndrome: thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis

A new syndrome: thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis

Ultrabiomicroscopic-Histopathologic Correlations in Individuals with Autosomal Dominant Congenital Microcoria: Three-Generation Family Report

A new hereditary syndrome with a bleeding tendency, extreme miosis, spasms, dyslexia, thrombocytopathia etc.

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