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2018

ANUÁRIO DO HOSPITAL DONA ESTEFÂNIA
REPOSITÓRIO MÉDICO CIENTÍFICO

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ALSTRÖM SYNDROME: A SYSTEMIC CILIOPATHY WITH CONE-ROD DYSTROPHY

Ricardo Figueiredo1, Nuno Moura-Coelho2, Guilherme Néri Pires2, Cristina Brito2

1. Serviço de Oftalmologia, Hospital do Espírito Santo, EPE, Évora.
2. Serviço de Oftalmologia, Centro Hospitalar de Lisboa Central, EPE, Lisboa.

- European Society of Ophthalmology 2017, Barcelona, 10-13 de junho de 2017 (Electronic Poster Presentation)

Purpose: Alström syndrome is a very rare systemic ciliopathy characterized by multiorgan dysfunction that has cone-rod dystrophy as its most consistent feature. Extraocular manifestations include childhood obesity, progressive sensorineural hearing impairment, metabolic syndrome, dilated cardiomyopathy and slowly progressive renal dysfunction. We present a case of Alström syndrome with cone-rod dysfunction.
Methods: A 7-year-old girl previously diagnosed with Alström syndrome with regular follow-up in several Pediatrics sub-specialties was referred to Ophthalmology with complaints of progressive loss of visual acuity and light sensitivity. Ophthalmological examination, image study and electrophysiology testing were performed.
Results: The patient had a past medical history of morbid obesity, insulin resistance and pseudoacanthosis nigricans but no diabetes mellitus, hearing impairment, cardiomyopathy or kidney failure. She had a best corrected visual acuity of 4/10 in the right eye and 3/10 in the left eye, horizontal and torsional nystagmus and alternating convergent strabismus. Anterior segment examination was normal. Fundoscopy revealed slight optic nerve hypoplasia and generalized vascular tortuosity in both eyes. Electrophysiology testing revealed cone-rod dysfunction, worse in the left eye, and prolonged latency times and low prechiasmatic amplitudes in visual evoked potentials.
Conclusion: Alström syndrome should be considered in children with obesity and cone-rod dystrophy. As there are no pathognomonic fundus findings, electrophysiology testing is valuable to the retinal dystrophy diagnosis. Although this patient had reasonable visual acuity, retinal dystrophy tends to progress in a severe manner, usually leading to no light perception in early twenties. Proper follow-up with a multidisciplinary team is warranted given the systemic involvement of the disease.

Keywords: Alström syndrome, cone-rod retinal dystrophy.