Diallinas-Amalric syndrome

Classification according to ICD-10
Q13.2	Other congenital malformations of the iris
Q15.8	Other specified congenital malformations of the eye
H35.3	Degeneration of the macula and posterior pole
H91.3	Deaf dumbness, not elsewhere classified
ICD-10 online (WHO version 2019)

The Diallinas-Amalric syndrome is a very rare congenital disease with a combination of macular dystrophy with deafness , iris heterochromia and megalocornea on both sides.

Synonyms are: Amalric syndrome; Macular dystrophy in deaf dumbness; english deaf mutism-foveal dystrophy

The apparently uncommon name refers to the authors of the first description from 1959 by the French ophthalmologist Pierre Amalric (1923–1999) and in the following year by the Greek ophthalmologist Nicolaos Pindaros Diallinas .

distribution

The disease is familial; the inheritance is presumably autosomal - recessive .

Clinical manifestations

Clinical criteria are:

• Congenital inner ear hearing loss, possibly deaf-mute
• atypical retinopathia pigmentosa (macular dystrophy) without night blindness

In addition, a arachnodactyly come.

Differential diagnosis

The following are to be distinguished:

• Alport syndrome
• Alström syndrome
• Behr syndrome I.
• Cockayne Syndrome
• Waardenburg syndrome
• Laurence-Moon-Biedl-Bardet syndrome
• Refsum syndrome
• Stargardt's disease
• Usher Syndrome

literature

• R. Rochels, M. Gross: The Diallinas Amalric Syndrome. In: Clinical monthly sheets for ophthalmology. Vol. 179, No. 6, December 1981, pp. 531-532, doi: 10.1055 / s-2008-1057385 , PMID 7343752 .

Individual evidence

1. ↑ ^{a b c d} Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
2. ↑ PM Amalric: Nouveau type de degénérescence tapetoretinienne au cours de la sourdimutié. In: Bulletins de la Société Médicale , Paris, 1960, vol. 73, pp. 196-212.
3. ↑ NP Diallinas: Les altérations oculaires chez les-sourds muets. In: Journal de genetique humaine , Geneva, 1959, vol. 8, pp. 225-262.
4. ↑ Who named it Diallinas-Amalric syndrome

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !