Purpose To study long‐term outcome of SBS on visual and cognitive functions. Methods Case series of 10 children (7 M, 3 F) with confirmed SBS has been examined and followed‐up. All chldren underwent a fundus evaluation by indirect ophtalmoscopy and wide‐field digital ophtalmic camera (RetCam II) in the acute phase and until retinal hemorrhage resorption. The assessment was repeated at follow‐up combined with ocular motility evaluation, visual field (BEFIE test), visual acuity by preferential looking tecnique (teller acuity cards), refractometry, cognitive‐behavioural evaluations (Griffiths scales, Child Behaviour Check List), and family stress measurement (Parenting Stress Index). Results Mean age at acute episode of SBS: 6 months (range 2‐20). Mean age at last follow‐up evaluation: 27.6 months (range 4.5‐41). At last follow‐up evaluation: 1 out of 6 had a decreased visual acuity (cortical visual impairment), 3 out of 6 had mild‐severe visual field deficits, 3 out of 6 has strabismus. None of the cases showed significant refractive errors. Due to age or severity of impairment and delay in global development, in any of the cases we were able to perform a recognition acuity test by symbols or E‐charts. Cognitive and behavioural assessment demonstrated global delay and impaiments in speech/language development and attention problems. Conclusion SBS is characterized by severe long‐term sequelae both in visual and cognitive function. Several visual impairments are observed, mainly related to cortial injury of visuo‐spatial area. Although follow‐up is difficult due to family history, there is strong indication for global assessment until scholar age where other impairments are demonstrated.
Purpose: Describe the long term follow‐up of children affected by congenital achromatopsia (CA). CA is a rare recessive inherited vision disorder (1:50000) and includes two clinical categories: complete CA and incomplete CA. Methods: Fourteen children (9 M, 5 F) were followed‐up and a rehabilitation individual program was carried out. The assessment included: far and near visual acuity (Teller, Lea Symbols, Snellen Charts),refraction, color vision (Farnsworth, Ishihara, Montessori), contrast sensitivity, visual field, slit lamp examination, fundus ophthalmoscopy, electrophysiologic tests (photopic, scotopic and flicker ERG and VEPs) and genetic examination. Results: Early onset of nystagmus, low vision and photophobia are first clinical manifestations of CA. The differential diagnosis includes Leber Amaurosis, and congenital nystagmus and albinism. Visual acuity in our patients is around 1/10 and it is worse for near. Refractive errors showed a distribution toward hyperopia (50%) and emmetropia (35%). Macular hypoplasia is present in all cases and electrophysiology showed a reduced or absent photopic ERG, while scotopic system appears normal. Conclusions: Due to abnormal or totally absent cone function, which lead to macular hypoplasia, CA shows reduced visual acuity, absent/severely impaired color vision, nystagmus and photophobia. Low vision aids such as telescopic systems and magnification devices along with OCR/ICR software were prescribed after a carefully evaluation. Spectral filters were early prescribed to reduce photophobia and improve vision. The molecular analysis may confirm the diagnosis and give genetic couseling to the family. An early detection of CA is underlined by the importance to carry out a complete and precocious rehabilitative approach.
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