A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice

Abstract

Background: Non-syndromic inherited retinal dystrophies (IRDs) such as retinitis pigmentosa or Leber congenital amaurosis generally manifest between early childhood and late adolescence, imposing profound long-term impacts as a result of vision impairment or blindness. IRDs are highly heterogeneous, with often overlapping symptoms among different IRDs, and achieving a definite diagnosis is challenging. This narrative review provides a clinical overview of the non-syndromic generalized photoreceptor dystrophies, particularly retinitis pigmentosa and Leber congenital amaurosis. The clinical investigations and genetic testing needed to establish a diagnosis are outlined, and current management approaches are discussed, focusing on the importance of the involvement of an interdisciplinary team from diagnosis and initial care to long-term follow-up and support.

Results: The effective management of IRDs requires a multidisciplinary, and ideally interdisciplinary, team of experts knowledgeable about IRDs, with experienced professionals from fields as diverse as ophthalmology, neuropsychiatry, psychology, neurology, genetics, orthoptics, developmental therapy, typhlology, occupational therapy, otolaryngology, and orientation and mobility specialties. Accurate clinical diagnosis encompasses a range of objective and subjective assessments as a prerequisite for the genetic testing essential in establishing an accurate diagnosis necessary for the effective management of IRDs, particularly in the era of gene therapies. Improvements in genome sequencing techniques, such as next-generation sequencing, have greatly facilitated the complex process of determining IRD-causing gene variants and establishing a molecular diagnosis. Genetic counseling is essential to help the individual and their family understand the condition, the potential risk for offspring, and the implications of a diagnosis on visual prognosis and treatment options. Psychological support for patients and caregivers is important at all stages of diagnosis, care, and rehabilitation and is an essential part of the multidisciplinary approach to managing IRDs. Effective communication throughout is essential, and the patient and caregivers' needs and expectations must be acknowledged and discussed.

Conclusion: As IRDs can present at an early age, clinicians need to be aware of the clinical signs suggesting visual impairment and follow up with multidisciplinary support for timely diagnoses to facilitate appropriate therapeutic or rehabilitation intervention to minimize vision loss.

Keywords: Clinical diagnosis; Early-onset retinal dystrophy; Inherited retinal diseases; Leber congenital amaurosis; Molecular diagnosis; Multidisciplinary; Retinitis pigmentosa; Visual function.

Fig. 1

Wide-field fundus photographs (A, B) and autofluorescence imaging (C, D) of the right and left eye of a patient with retinitis pigmentosa. Wide-field fundus photographs showing widespread retinal dystrophy with pigment clumping, narrowing of retinal vessels and pale optic disc. Fundus autofluorescence showing hyperautofluorescence ring at the macular region, widespread hypoautofluorescence abnormalities in mid and far periphery and small optic disc drusen in both eyes

Fig. 2

Fundus photography and optical coherence tomography (OCT)/ fundus autofluorescence (FAF) of pediatric patients showing silent fundus images, but evocative OCT and FAF picture of early-onset inherited retinal dystrophy (IRD). A, B: Fundus image and FAF of early onset IRD in an 8-year-old child with rod-cone dystrophy. Note the hyperautofluorescence ring at the posterior pole in FAF. C, D: Fundus image and OCT scan of a 5-year-old child with early-stage ABCA4 maculopathy. Note the thickening of the outer limiting membrane (red arrows). E, F: Fundus image of a 10-year-old child (brother of C, D) showing silent fundus image but clear altered ellipsoid zone and macular atrophy

Fig. 3

The biopsychosocial model provides a unitary and global approach to the person and represents a good platform for an interdisciplinary approach between the various professions involved in managing patients with inherited retinal diseases

Fig. 4

The patient-centered multidisciplinary team approach to vision rehabilitation in visually impaired children and young/young-adult persons with inherited retinal dystrophies. The green circles identify the professionals dedicated exclusively to the subject in the developmental age