Choroideremia

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Classification according to ICD-10
H31.2 Hereditary dystrophy of the choroid - choroidemia
ICD-10 online (WHO version 2019)

The choroideremia (CHM) , outdated notation choroideremia, is a very rare congenital disease progresses atrophy of the choroid in the male sex.

The word comes from ancient Greek χόριον chórion , German 'skin' , ancient Greek εἶδος eîdos , German 'that to be seen, shape' and ancient Greek ἔρημος érēmos , German 'leave' .

Synonyms are: tapetochoroidal dystrophy; Tapeto · Choroidal degeneration, progressive; Tapeto choroidal degeneration

The first description comes from the year 1872 by the Austrian ophthalmologist Ludwig Mauthner

distribution

The frequency is given as 1 in 50,000 to 1 in 100,000, the inheritance is X-linked recessive .

root cause

Of the disease are mutations in the CHM - gene on the X chromosome locus q21.2 based on which of -1 for the Rab escort protein (REP) Ras -related GTPase Rab coded.

Mutations in the CHM gene lead to a disturbed association of the Rab protein with the donor membranes and thus to cell death.

Clinical manifestations

Clinical criteria are:

diagnosis

The diagnosis is based on the ophthalmological examination: pigment spots on the fundus, focal atrophy of the choroid, in the final stage significant degenerative changes in the RPE, only remnants of the choroid vessels in the macula, the outermost periphery and in the vicinity of the optic disc.

Fundus anomalies may be present in the carriers.

Differential diagnoses

The following are to be distinguished:

therapy

A causal treatment does not yet exist; studies on gene therapy are in the clinical development phase .

literature

  • DP Mucciolo, V. Murro, A. Sodi, I. Passerini, D. Giorgio, G. Virgili, S. Rizzo: Peculiar Clinical Findings in Young Choroideremia Patients: A Retrospective Case Review. In: Ophthalmologica. Volume 242, number 4, 2019, pp. 195-207, doi: 10.1159 / 000501282 , PMID 31416074 .
  • ME Pennesi, DG Birch, JL Duncan, J. Bennett, A. Girach: CHOROIDEREMIA: Retinal Degeneration With an Unmet Need. In: Retina. Volume 39, Number 11, November 2019, pp. 2059-2069, doi: 10.1097 / IAE.0000000000002553 , PMID 31021898 .
  • A. Skorczyk-Werner, A. Wawrocka, N. Kochalska, MR Krawczynski: Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment. In: Orphanet Journal of Rare Diseases. 13, 2018, doi: 10.1186 / s13023-018-0965-5 .

Individual evidence

  1. ↑ Terminologia Anatomica from 1998
  2. ^ Willibald Pschyrembel : Clinical Dictionary , 266th, updated edition, de Gruyter, Berlin 2014, ISBN 978-3-11-033997-0
  3. ↑ a b c d e f Chorioideremia. In: Orphanet (Rare Disease Database).
  4. ↑ L. Mauthner: Ophthalmologische. Communications: 2. A case of choroidemia. In: Reports of the Natural Science-Medical Association Innsbruck , 1872, pp. 191–197
  5. ↑ Choroideremia.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ N. Erkilic, V. Gatinois, S. Torriano, P. Bouret, C. Sanjurjo-Soriano, V. Luca, K. Damodar, N. Cereso, J. Puechberty, R. Sanchez-Alcudia, CP Hamel, C. Ayuso, I. Meunier, F. Pellestor, V. Kalatzis: A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia. In: Cells. Volume 8, number 9, September 2019, p., Doi: 10.3390 / cells8091068 , PMID 31514470 , PMC 6770680 (free full text).
  7. ↑ M. Paavo, JR Carvalho, W. Lee, JD Sengillo, SH Tsang, JR Sparrow: Patterns and Intensities of Near-Infrared and Short-Wavelength Fundus Autofluorescence in Choroideremia Probands and Carriers. In: Investigative ophthalmology & visual science. Volume 60, number 12, September 2019, pp. 3752-3761, doi: 10.1167 / iovs.19-27366 , PMID 31499530 , PMC 6735265 (free full text).
  8. ↑ J. Cehajic Kapetanovic, AR Barnard, RE MacLaren: Molecular Therapies for Choroideremia. In: Genes. Volume 10, Number 10, 09 2019, S., doi: 10.3390 / genes10100738 , PMID 31548516 (Review).
  9. ↑ AR Barnard, M. Groppe, RE MacLaren: Gene therapy for choroideremia using an adeno-associated viral (AAV) vector. In: Cold Spring Harbor perspectives in medicine. Volume 5, number 3, October 2014, p. A017293, doi: 10.1101 / cshperspect.a017293 , PMID 25359548 , PMC 4355255 (free full text) (review).

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