Presentation
The typical presentation is based on fixed dilated pupils in a hypotonic child. Iris abnormalities distinguish GS from other forms of aniridia. [ncbi.nlm.nih.gov]
It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person. Disclaimer: Whonamedit? does not give medical advice. [whonamedit.com]
Differential diagnosis Differential diagnosis includes Marinesco-Sjögren syndrome (see this term) in which congenital cataract is present, as well as cerebellar ataxia, intellectual disability, and aniridia (see this term). [orpha.net]
Entire Body System
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Pulmonary Valve Stenosis
valve stenosis Congenital pulmonary veins atresia or stenosis Congenital tracheomalacia Congenital vitamin K-dependent coagulation factors deficiency Connective tissue disorder due to lysyl hydroxylase-3 deficiency Continuous spikes and waves during [sanfordresearch.org]
Respiratoric
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Saddle Nose
nose (a nose in which the bridge has an externally visible concavity and loss of height), thick lower lip, large tongue, an inflammatory skin disorder, smooth hair, obesity, small genitalia, short fingers, congenital heart anomalies and intellectual [tsbvi.edu]
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Delayed Speech Development
In addition, difficulty controlling the muscles of the mouth can lead to delayed speech development. The difficulties with coordination generally become noticeable in early childhood when the individual is learning these skills. [ghr.nlm.nih.gov]
Face, Head & Neck
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High Forehead
Mild facial dysmorphic features may be observed such as high forehead, hypertelorism, epicanthic folds, depressed nasal bridge with anteverted nostrils, and thin upper lip. [orpha.net]
Besides the earlier reported features of relative macrocephaly and a broad and high forehead, 20 23 37 other distinctive features were downslanting and/or bent palpebral fissures, ptosis and/or blepharophimosis, marked nasolabial folds, and a wide mouth [jmg.bmj.com]
Psychiatrical
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Suggestibility
[…] a phenotype suggestive of a chromosomal abnormality. 2008 – Mariën P found limited cognitive deficit that closely resembles the "cerebellar cognitive and affective syndrome" (CeCAS). [en.wikipedia.org]
To report a patient with a phenotype suggestive of Gillespie syndrome and with a chromosomal abnormality. Clinical evaluation showed bilateral superior coloboma, foveal hypoplasia, and inferior cerebellar hypoplasia. [ncbi.nlm.nih.gov]
Cerebral and cerebellar atrophy with white matter changes on MRI scan were present in our second patient suggesting that patients with Gillespie syndrome may have more extensive CNS involvement than previously described. [doi.org]
Posterior segment OCT changes suggest that outer retinal damage suggestive of a phototoxic retinopathy may also be a factor in the reduced acuity. [disorders.eyes.arizona.edu]
Neurologic
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Cerebellar Ataxia
In 1931 Marinesco et al 1 reported a family in which five siblings, four boys and a girl, had cerebellar ataxia and oligophrenia with congenital cataracts. [doi.org]
Gillespie: Aniridia, cerebellar ataxia and oligophrenia in siblings. Archives of Ophthalmology, Chicago, 1965; 73: 338-341. J. François et al: Gillespie's syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia). [whonamedit.com]
Gillespie syndrome, also called aniridia, cerebellar ataxia and mental deficiency. is a rare genetic disorder. [en.wikipedia.org]
ataxia-intellectual disability aniridia-cerebellar ataxia-mental deficiency aniridia, cerebellar ataxia, and mental retardation partial aniridia-cerebellar ataxia-oligophrenia Dentici ML, Barresi S, Nardella M, Bellacchio E, Alfieri P, Bruselles A, Pantaleoni [ghr.nlm.nih.gov]
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Hand Tremor
Neurologic evaluation revealed a mild hand tremor and learning disability, but no ataxia or cerebellar abnormalities on neuroimaging. Sequencing studies revealed a substitution in intron 2 of the PAX6 gene (IVS2 2T A). [ncbi.nlm.nih.gov]
129 2T A mutation had hand tremors and learning disabilities [ 6 ]; a boy with c.111_141ins had intellectual impairment [ 29 ]; microcephaly, developmental delay, and several minor dysmorphic features were noted in the sporadic patient with I87R mutation [molvis.org]
Systemic features frequently include hand tremors and hypertonia. There is usually some degree of developmental delay ranging from fine motor difficulties to intellectual disabilities. [tsbvi.edu]
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Scanning Speech
Other features include scanning speech, incoordination and attention tremor, and mental and motor retardation. Aetiology unknown. [whonamedit.com]
Non-progressive cerebellar ataxia is associated with delayed developmental milestones and hypotonia (visible from the first year of life), gait and balance disorders with incoordination, intention tremor, and scanning speech. [orpha.net]
People with this disorder may walk unsteadily and have difficulty positioning the feet and turning (cerebellar gait); they may also speak slowly and haltingly, with pauses between each syllable (scanning speech). [rarediseases.org]
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Mydriasis
Gillespie syndrome reported as bilateral congenital mydriasis. Br J Ophthalmol. 1992;; 76 632-633 09 Richardson P, Schulenberg W E. Bilateral congenital mydriasis. Br J Ophthalmol. 1992;; 76 632-633 10 Wittig E O, Moreira C A, Friere-Maia N et al. [doi.org]
Individuals with aniridia-cerebellar ataxia-mental deficiency may also have additional eye abnormalities, such as excessive widening (dilatation) of the pupils (mydriasis) and/or extreme sensitivity to light (photophobia). [rarediseases.org]
Quarrell O (1993) Gillespie syndrome reported as bilateral congenital mydriasis. Br J Ophthalmol 77: 827–828. View Article Google Scholar 33. [journals.plos.org]
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Scanning Speech
Other features include scanning speech, incoordination and attention tremor, and mental and motor retardation. Aetiology unknown. [whonamedit.com]
Non-progressive cerebellar ataxia is associated with delayed developmental milestones and hypotonia (visible from the first year of life), gait and balance disorders with incoordination, intention tremor, and scanning speech. [orpha.net]
People with this disorder may walk unsteadily and have difficulty positioning the feet and turning (cerebellar gait); they may also speak slowly and haltingly, with pauses between each syllable (scanning speech). [rarediseases.org]
Workup
Ectropion uveae is a common ocular finding whose presence in a neonate should prompt a workup for NF1. Other ocular findings associated with NF1 include Lisch nodules, optic nerve gliomas, eyelid neurofibromas, and glaucoma. [entokey.com]
[…] performed. [3] If there is an affected parent it is unlikely that the child has a deletion extending to WT1, although rare cases have been reported. [3] Tests Table 1: Genetic Tests for Aniridia by Phenotype and Family history [3] Testing Strategy Clinical Workup [eyewiki.aao.org]
Treatment
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]
Aniridia Cerebellar Ataxia Mental Deficiency treatment plans will vary depending on the specific signs and symptoms observed Since there is no cure for the condition, the treatment goals include symptomatic management and measures to improve mental functioning [dovemed.com]
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]
A diagnosis in these patients can have a dramatic effect on the course of treatment. [congenica.com]
Prognosis
Prognosis There are no reports on the natural history of the disease. Prognosis depends on the proper management and anticipation of ocular and mental symptoms and disabilities. [orpha.net]
The prognosis is also worse if the glaucoma is diagnosed after 1 year of age and if the corneal diameters are larger than 14 mm at diagnosis. [entokey.com]
[…] the condition, then genetic counseling will help assess risks, before planning for a child Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders What is the Prognosis [dovemed.com]
Penetrating keratoplasty (PK) may be considered; however, PK alone has a poor prognosis, probably due to the primary limbal stem cell insufficiency. [eyewiki.aao.org]
Early institution of physical therapies for patients with developmental delay should be able to improve their long-term prognosis. [molvis.org]
Etiology
Etiology The etiology is unknown. Some atypical cases have been linked to mutations in the PAX6 gene (11p13), encoding a transcriptional regulator expressed in ocular, cerebral, olfactory, and pancreatic tissues. [orpha.net]
(Etiology) Researchers are yet to ascertain the exact cause of Aniridia Cerebellar Ataxia Mental Deficiency. Currently, the genetics of the disorder are not known in detail. [dovemed.com]
The underlying mechanism is unclear, but likely etiologies include congenital anomalies, surgically induced inflammation, and altered intraocular anatomy postoperatively. [entokey.com]
Cerebellar Ataxia X-linked Non Progressive Cerebellar Ataxia X-linked Cerebellar Ataxia Vitamin B12 Deficiency Ataxia Toxic Exposure Ataxia Unclassified Autosomal Dominant Spinocerebellar Ataxia Thyroid Antibody Ataxia Sporadic Adult-onset Ataxia of Unknown Etiology [explorer.opentrials.net]
The etiology of this retinal dysfunction remains unclear. Perhaps it may be due to foveal aplasia or hypoplasia, secondary to PAX6 mutation or phototoxicity as a result of iris maldevelopment. [eyewiki.aao.org]
Epidemiology
Summary Epidemiology To date, less than 30 patients have been reported in the literature. Clinical description Aniridia is visible at birth as fixed dilated pupils and is associated with photobia. [orpha.net]
A genetic and epidemiological study. Clin.Genet. 31 (1987) 86–90. PubMed CrossRef Google Scholar Yoshida, H., S.-I. Hayashi, T. [link.springer.com]
Epidemiology Aniridia is seen in approximately 1.8/100 000 live births. [4] The incidence ranges from 1:40 000 to 1:100.000. [eyewiki.aao.org]
Pathophysiology
In PCG, the pathophysiologic defect is increased resistance to outflow through the trabecular meshwork. Ophthalmologist Otto Barkan hypothesized that this resistance was caused by a membrane covering the anterior chamber angle. [entokey.com]
Prevention
The goal of treatment is to manage symptoms and improve one’s mental functioning Currently, there are no specific measures available to prevent Aniridia Cerebellar Ataxia Mental Deficiency genetic condition. [dovemed.com]
Arrayit Corporation ( ARYC ) leads and empowers the genetic, research, pharmaceutical, and diagnostic communities through the discovery, development and manufacture of proprietary life science technologies and consumables for disease prevention, treatment [arrayit.com]
Physiotherapy might be beneficial to prevent progressive contractures in case of spasticity. The management and follow-up of associated organ system involvements should be adjusted to the specific underlying problems and the patient’s needs. [jmg.bmj.com]
Filtration surgery success rate ranges from 66% to 100%. [3] Prophylactic goniotomy is quite effective in the prevention of glaucoma in patients with early signs of angles changes. Success rates ranges from 89% to 100%. [eyewiki.aao.org]
Lauderdale JD, Wilensky JS, Oliver ER, Walton DS, Glaser T (2000) 3' deletions cause aniridia by preventing PAX6 gene expression. Proc Natl Acad Sci U S A 97: 13755–13759. pmid:11087823 View Article PubMed/NCBI Google Scholar 56. [journals.plos.org]