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2017 ; 6
(1
): 93-104
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Clinical Practice: A Proposed Standardized Ophthalmological Assessment for
Patients with Cystinosis
#MMPMID28477325
Pinxten AM
; Hua MT
; Simpson J
; Hohenfellner K
; Levtchenko E
; Casteels I
Ophthalmol Ther
2017[Jun]; 6
(1
): 93-104
PMID28477325
show ga
Cystinosis is a rare autosomal recessive disease with an incidence of
approximately 1 case per 100,000-200,000 live births. Over the years, gaining
in-depth knowledge of the disease has led to vast improvement in patient life
expectancy. However, debilitating, extra-renal manifestations such as eye
disease, in particular corneal crystal deposition and its associated photophobia,
still occur frequently, regardless of patient age and notwithstanding the
increased implementation of systemic therapy. Ophthalmological assessment has not
yet been standardized. The aim of this article was to provide clear
recommendations for ophthalmological assessment during follow-up of patients with
cystinosis to improve quality and regularity of ophthalmological care and thereby
minimize ophthalmological complications. A literature search was performed to
assess previous and current recommendations on examinations to conduct during
follow-up of patients with cystinosis. Multidisciplinary cystinosis clinics were
set up in collaboration with the Department of Ophthalmology and the Department
of Pediatric Nephrology to allow patients to be seen by a nephrologist, an
ophthalmologist and other specialists on the same day. Based on the results of
these multidisciplinary clinics the standardized clinical ophthalmological
assessment was drafted. This is a protocol for follow-up, describing the approach
taken regarding ophthalmological follow-up of patients with cystinosis,
considering the different types of the disease and the time since diagnosis.
Standard examination includes history, visual acuity, tonometry and slit-lamp
examination, with fundus photography performed at diagnosis and annually
thereafter. Confocal microscopy is the imaging modality of choice, while anterior
segment optical coherence tomography (OCT) is a good alternative. Finally,
posterior segment OCT for imaging of the macular region and optic nerve should be
conducted on an annual basis.
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