Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians

Abstract

IntroductionInherited retinal dystrophies are major cause of severe progressive vision loss in children. Early recognition and diagnosis are essential for timely visual rehabilitation during the appropriate stages of the visual development, as well as for genetic diagnosis and possible gene therapy. The aim of this study is to characterize a pattern of the initial visual symptoms, which could help the pediatricians and the primary care providers to suspect an inherited retinal disorder in its early stageMethodsWe analyzed the initial clinical symptoms, based on parental report during the first visit to specialist, in 50 children diagnosed with retinal dystrophy confirmed by full-field electroretinography. The analysis included the age of symptoms onset and the type of visual symptoms, both in the total population and in the following diagnostic subgroups: rod-cone dystrophy (n.17), cone-rod dystrophy (n.12), achromatopsia (n.13), congenital stationary night blindness (n.6) and Leber’s congenital amaurosis (n.2).ResultsThe majority of children (80%) had the onset of clinical symptoms before one year of age. The most frequent visual complaints reported by parents were nystagmus (76%), visual loss (28%) and photophobia (8%). Nystagmus was the first symptom reported by parents if the disease onset was before the age of six months, while the onset after the six months of age was more likely associated with the complain of vision loss.ConclusionsLow vision and nystagmus observed by parents, particularly in the first year of life, may represent a red flag, prompting an appropriate ophthalmological workup for inherited retinal dystrophy.

Care Pathway of RPE65-Related Inherited Retinal Disorders from Early Symptoms to Genetic Counseling: A Multicenter Narrative Medicine Project in Italy

“…Patients reported to have experienced the first signs of visual impairment during their early childhood. As also shown in other studies, 15 parental caregivers were able to reliably recognize some of the earliest RPE65 -related IRDs signs (light gazing, lack of eye contact, night blindness). Since confirming the clinical diagnosis may be challenging in early childhood, parental observation may be crucial for the clinical suspicion, and it may also help pediatricians and ophthalmologists to identify – or suspect – the condition and early refer patients to centers specialized in IRDs.…”

“… 7 , 8 While IRDs management remains mainly support-oriented with a focus on monitoring, education, and counseling, 3 gene therapy represents a novel potential treatment 3 , 9–11 as no treatments yet could slow or stop the progression of sight loss. 12 Since the age of onset ranges from early childhood to middle age, a timely detection of IRDs 13 , 14 and an optimal multidisciplinary management 15 can significantly influence the improvement of the patient’s quality of life and offer therapeutic perspectives: an early diagnosis is critical to proper visual rehabilitation, as well as for genetic diagnosis and counseling and gene replacement therapies. 16 , 17 In particular, referral to highly specialized centers ensures multidisciplinary and personalized care, 18 while a genetic diagnosis is critical to establish eligibility for an optimal gene therapy.…”

CRB1-associated retinal dystrophy presenting as self-resolving opsoclonus and posterior uveitis

“…In fact, nystagmus was the first symptom reported by parents if the disease onset was before six months of age. 11 Another Chinese study of 136 patients with a specific type of nystagmus (pendular low amplitude, high frequency) showed that 52% had abnormal fundi and 34% had genetic mutations causing various inherited retinal dystrophies. 12 Nystagmus has been reported in several specific cone and rod dystrophies, including congenital stationary night blindness, achromatopsia, LCA, Bardet-Biedl syndrome, Joubert's syndrome, and Alstrom's syndrome.…”

Inherited Retinal Degenerations in Portugal: Addressing the Unmet Needs

“…In preverbal children, abnormal visual behavior and nystagmus observed and reported by the parents should prompt an appropriate ophthalmological workup for IRD. 7…”