Ophthalmic features of cone‐rod dystrophy caused by pathogenic variants in the <i><scp>ALMS</scp>1</i> gene

Nasser, Fadi; Weisschuh, Nicole; Maffei, Pietro; Milan, Gabriella; Heller, Corina; Zrenner, Eberhart; Kohl, Susanne; Kuehlewein, Laura

doi:10.1111/aos.13612

Cited by 27 publications

(45 citation statements)

References 34 publications

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“…The parents usually observe nystagmus (“wobbling eyes”), early onset photophobia (avoidance of light) and very poor visual contact. Visual symptoms occur early in the first months but some cases are later in onset with a slower evolution [ 20 , 21 ]. The first referral to an ophthalmologist occurs usually before the age of one.…”

Section: Clinical Presentationmentioning

confidence: 99%

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Consensus clinical management guidelines for Alström syndrome

Tahani

Maffei

Dollfus

et al. 2020

Orphanet J Rare Dis

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Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13. ALMS is a multisystem, progressive disease characterised by visual disturbance, hearing impairment, cardiomyopathy, childhood obesity, extreme insulin resistance, accelerated non-alcoholic fatty liver disease (NAFLD), renal dysfunction, respiratory disease, endocrine and urologic disorders. Clinical symptoms first appear in infancy with great variability in age of onset and severity. ALMS has an estimated incidence of 1 case per 1,000,000 live births and ethnically or geographically isolated populations have a higher-than-average frequency. The rarity and complexity of the syndrome and the lack of expertise can lead to delayed diagnosis, misdiagnosis and inadequate care. Multidisciplinary and multiprofessional teams of experts are essential for the management of patients with ALMS, as early diagnosis and intervention can slow the progression of multi-organ dysfunctions and improve patient quality of life. These guidelines are intended to define standard of care for patients suspected or diagnosed with ALMS of any age. All information contained in this document has originated from a systematic review of the literature and the experiences of the authors in their care of patients with ALMS. The Appraisal of Guidelines for Research & Evaluation (AGREE II) system was adopted for the development of the guidelines and for defining the related levels of evidence and strengths of recommendations. These guidelines are addressed to: a) specialist centres, other hospital-based medical teams and staffs involved with the care of ALMS patients, b) family physicians and other primary caregivers and c) patients and their families.

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Section: Clinical Presentationmentioning

confidence: 99%

“…Later global pigment mottling and local clumps can appear whereas classical “bone spicules” are seldom reported. Crystalline deposits have been observed [ 21 ]. Electroretinography (ERG) (mandatory) The usual characterization is an early onset severe cone-rod dystrophy and confirmation must be made by a full-field ERG.…”

Section: Clinical Presentationmentioning

confidence: 99%

Consensus clinical management guidelines for Alström syndrome

Tahani

Maffei

Dollfus

et al. 2020

Orphanet J Rare Dis

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“…Retinal disease in AS is an early-onset, severe, progressive retinal cone-rod dystrophy that begins in infancy and leads to blindness in childhood [82,84,85]. Marked photophobia and horizontal nystagmus develop within the first weeks to months of life.…”

Section: Retinal Disease In Asmentioning

confidence: 99%

Clinical characteristics of individual organ system disease in non-motile ciliopathies

Grochowsky

Gunay‐Aygun

2019

TRD

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Non-motile ciliopathies (disorders of the primary cilia) include autosomal dominant and recessive polycystic kidney diseases, nephronophthisis, as well as multisystem disorders Joubert, Bardet-Biedl, Alström, Meckel-Gruber, oralfacial-digital syndromes, and Jeune chondrodysplasia and other skeletal ciliopathies. Chronic progressive disease of the kidneys, liver, and retina are common features in non-motile ciliopathies. Some ciliopathies also manifest neurological, skeletal, olfactory and auditory defects. Obesity and type 2 diabetes mellitus are characteristic features of Bardet-Biedl and Alström syndromes. Overlapping clinical features and molecular heterogeneity of these ciliopathies render their diagnoses challenging. In this review, we describe the clinical characteristics of individual organ disease for each ciliopathy and provide natural history data on kidney, liver, retinal disease progression and central nervous system function.

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“…Our patients have weight less than the 90 th percentile. Additionally, our patients both presented with high myopia, but previous studies primarily reported hyperopia in AS, ranging from mild to high, and mentioned only two cases of myopia [6,18,19,20,21,25,26,27,28]. Our patients have no family history of myopia, indicating that its development may be specific to these novel variants in ALMS1.…”

Section: Discussionmentioning

confidence: 56%

“…Alström syndrome most commonly presents with a cone-rod dystrophy, progressive sensorineural hearing loss, short stature, obesity, cardiomyopathy and various degrees of metabolic disturbances [6,18,19,20,21]. Most symptoms are typically begin in the first decade of life but there is a severety of the phenotypic spectrum [22].…”

Section: Discussionmentioning

confidence: 99%