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Dr. Andrew Rynne
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Article Home Eye Problems Gillespie Syndrome

Gillespie Syndrome

It is laso known as Aniridia, Cerebella Ataxia, mental deficiency, Aniridia, Cerebella Ataxia, Mental Retardation,Partial Aniridia, Cerebella Ataxia, Mental Retardation,Partial Aniridia, Cerebella Ataxia, Oligophrenia

It is extrmely rare genertic disease affecting eyes and brain.It is a rare genetic disoder charecterized by partial aniridia, ataxia and intellectual disability.

Features of Gillespie Syndrome

  • Bilateralpartial iris hypoplasia:In this the coloured ring part of iris will be absent hence the eye looks large and unresponsive pupils. It is also known as aplasia of pupillary zone of iris, circumpupillary aplasia of the iris, bilateral superior coloboma.
  • Foveal hypoplasia: In this the vision is reduced to 20/60.
  • Nystagmus (woobly eyes)
  • Ptosis (droppy eye lids)
  • Congenital non-progressive cerebella ataxia: Patient will have poor muscle tone, difficulties in maintaining balance and co-ordination. Patient appear clumpsy, un-coordinated and appear drunk. Intelligence is normal and speech is normal.

A rare familial syndrome present from birth and affecting both sexes, characterised by partial or complete aniridia, aplasia involving only the pupillary zone of the iris, and congenital nonprogressive bilateral partial cerebellar ataxia with hypotonia. Other features include scanning speech, incoordination and attention tremor, and mental and motor retardation. Aetiology unknown. Inheritance is autosomal recessive