Alacrima

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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

OMIM Number

601549

Mode of Inheritance

Autosomal recessive

Description

Congenital alacrima is characterized by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth. Prevalence is unknown. Artificial tears are the first treatment option, needed to avoid corneal sequel, which are the most feared complication.

Molecular Genetics

Alacrima is inherited as an autosomal recessive trait.

Epidemiology in the Arab World

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Other Reports

Jordan

Hegab and Al-Mutawa (1996) reported a large Jordanian family in which two phenotypically normal sisters each married to a phenotypically normal paternal cousin. One couple had one female and one male child with congenital alacrima (but no achalasia); the other couple had a similarly affected girl. The lacrimal glands were present, the lacrimal puncta were patent and apparently normal, but no tear production could be elicited with tensilon or neostigmine. Autosomal recessive inheritance of isolated congenital alacrima was proposed in this family.

Kuwait

Hegab et al. (1991) reported a Kuwaiti Arab family in which the father and one of his two sons have severe hypolacrimation with blotchy staining of the cornea and punctate staining of the interpalpebral bulbar conjunctiva by fluorescein and Rose Bengal. Pharmacologic testing together with biochemical analysis and systemic examinations and investigations led Hegab et al. (1991) to suggest an isolated dysfunction of lacrimation.

[See also: Jordan > Hegab and Al-Mutawa, 1996].

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