Colour vision deficiency and inherited retinal disease

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Target exams

Red flags

• An infant with the roving eye movements, the nystagmus, the photophobia and the severely poor vision from the first months of life has a congenital retinal dystrophy, the Leber congenital amaurosis or the achromatopsia, until the electroretinography and the genetic testing settle the cause
• A child with the progressive night blindness, the bumping into objects in the dim light and the constriction of the visual field has a rod-cone dystrophy, the retinitis pigmentosa, until proven otherwise
• A child with the central reading difficulty, the reduced acuity and the macular pigmentary change has a macular dystrophy, the Stargardt disease or the cone dystrophy, and the delay of the diagnosis costs the educational support and the genetic counselling
• A boy with the X-linked family history of the progressive sight loss and the chorioretinal atrophy has the choroideremia or the X-linked retinoschisis, and the mother and the sisters need the carrier testing and the counselling
• The sudden or the rapidly progressive loss of the vision in a child is never a stable congenital colour deficiency, and it demands the urgent referral to the ophthalmology service

Life stages

Care settings

Clinical exam formats

Board mappings

• Recognises the congenital colour vision deficiency as the common and the benign X-linked red-green defect, and distinguishes it from the progressive inherited retinal dystrophy that threatens the sight
• Names the retinitis pigmentosa as the commonest inherited retinal dystrophy, presenting with the night blindness and the visual field constriction, and refers the child for the electroretinography and the genetic testing
• Performs the Ishihara plate test correctly and interprets the result, recognising that the Ishihara screens the red-green defect and misses the blue-yellow tritan defect
• Explains the molecular genetics of the inherited retinal disease, naming the RPE65 gene of the Leber congenital amaurosis and the ABCA4 gene of the Stargardt disease, and the implication for the gene therapy
• Applies the electroretinography, the autofluorescence and the optical coherence tomography to the classification of the rod-cone, the cone and the macular dystrophies
• Coordinates the multidisciplinary pathway with the paediatric ophthalmology, the clinical genetics and the low-vision service, integrating the genetic counselling and the gene therapy where it applies
• The boy who bumps into objects in the dim light and cannot see at night has a rod-cone dystrophy, the retinitis pigmentosa, until the electroretinography proves otherwise
• The infant with the nystagmus, the photophobia and the poor vision has a congenital retinal dystrophy, and the absence of the treatable RPE65 Leber congenital amaurosis must be excluded with the genetic testing
• The common red-green colour deficiency is the benign X-linked defect in one in twelve males, and the reassurance and the vocational advice are the management, while the progressive colour change demands the referral
• Examines the child with the suspected inherited retinal disease systematically, testing the colour vision, the visual fields and the fundus, and recognising the bone-spicule pigmentation and the macular change
• Counsels the family of a child newly diagnosed with the Stargardt disease about the inheritance, the prognosis and the genetic testing of the siblings and the parents
• Synthesises the management plan that balances the low-vision support, the educational adaptation, the genetic counselling and the gene therapy or the clinical trial across the chronic disease
• Level 1: Recognition of the colour vision deficiency on the Ishihara testing and the night blindness of the retinitis pigmentosa
• Level 2: Application of the ophthalmology referral, the electroretinography, the imaging and the genetic testing to the diagnosis and the classification of the inherited retinal disease
• Level 3: Coordination of the multidisciplinary management with the low-vision service, the clinical genetics and the gene therapy for the RPE65 disease
• The red-green colour vision deficiency as the X-linked recessive defect of the OPN1LW and the OPN1MW opsin genes, and the distinction of the congenital from the acquired tritan defect
• The retinitis pigmentosa as the commonest inherited retinal dystrophy, the Stargardt disease as the commonest macular dystrophy, and the Leber congenital amaurosis as the severe congenital form
• The RPE65 gene and the voretigene neparvovec gene therapy as the first approved gene therapy for an inherited disease
• Correct performance and interpretation of the Ishihara plate test, recognising its limitation for the blue-yellow tritan defect
• Communication of the diagnosis of an inherited retinal dystrophy to the family, balancing the realistic prognosis with the genetic counselling and the hope of the gene therapy and the clinical trial
• Structured examination that distinguishes the rod-cone dystrophy from the cone dystrophy and the macular dystrophy on the history, the fields and the fundus
• The congenital colour vision deficiency as the common and benign X-linked trait, and the distinction from the progressive inherited retinal dystrophy
• The diagnostic pathway from the colour testing and the visual fields to the electroretinography, the autofluorescence and the molecular genetic testing
• The management with the low-vision aids, the educational support, the genetic counselling and the gene therapy for the RPE65 Leber congenital amaurosis
• Recognition of the night blindness and the field constriction of the retinitis pigmentosa, and the nystagmus and the poor vision of the congenital retinal dystrophy
• Application of the colour vision testing at the school-entry vision screening and the correct interpretation of the result
• Coordination of the multidisciplinary pathway with the paediatric ophthalmology, the clinical genetics and the low-vision service
• Canadian approach to the evaluation of the child with the colour vision deficiency or the suspected inherited retinal dystrophy, and the integration of the genetic testing
• The molecular genetics and the inheritance patterns as the guide to the prognosis and the genetic counselling of the family
• The multidisciplinary management and the access to the gene therapy and the clinical trial for the eligible child