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Multimodal imaging in MIDD syndrom

Author: Fatma Abid (Tunisia)

Co-authors: Takwa Ouali, Amina Ouerdani, Afef Chebbah, Anis Mahmoud, Riadh Messaoud

Purpose

Maternally inherited diabetes and deafness (MIDD) is a multisystemic disorder that includes diabetes, hearing loss and ocular manifestations. The main ocular feature described in MIDD is macular dystrophy. The aim of this work is to describe the outcomes of multimodal retinal imaging and to show its importance in the characterization and diagnosis of MIDD syndrome.

Setting/Venue

It is a single case report. Our patient was an eight-year-old female child hospitalized in pediatrics for a first discovery diabetic ketoacidosis. She was referred in Ophthalmology department of the University Hospital “Taher SFAR” of Mahdia in TUNISIA, to systematic examination looking for orientation specific signs.

Methods

A detailed history and bilateral slit-lamp examination were performed. Multimodal imaging included fundus photography, fundus autofluorescence (FAF) Fluorescein angioraphy (FA), swept-source optical coherence tomography of the macula (SS-OCT) and multifocal electroretinography (mf-ERG). A PCR-invader assay was performed on the DNA of the patient to confirm the diagnosis.

Results

The pediatric examination of our patient showed sensorineural hearing loss with a history of cochlear implantation at the age of one year old and diabetes mellitus revealed by ketoacidosis. In fundus examination, macular area was altered. FAF showed fine perifoveal deposits and FA showed retinal pigment epithelium (RPE) atrophy in macular area. RPE layer was altered in SS-OCT. Multifocal ERGs showed a normal function of photoreceptors. The diagnosis was confirmed with a genetic research of the causative mutation in the patient’s DNA.

Conlusions

The coexistence of diabetes mellitus, central hearing loss and macular dystrophy is very suggestive of MIDD syndrome. The characteristics of macular pattern dystrophy in multimodal imaging guide the diagnosis and showed that RPE dysfunction may precede photoreceptor dysfunction in patients with MIDD.

Financial Disclosure

Authors have no financial interest in relation to this work.

Comments

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