Skin fragility disorder misdiagnosed as child abuse: a cautionary tale

To the Editor: We read with interest the report by Willems and colleagues1 on skin fragility disorder being misdiagnosed as child abuse, which highlights genetic cutaneous mimics of child abuse. We highlight retinal mimics of child abuse and reiterate the role of genetic testing in selected cases.

Child abuse was responsible for at least 23 deaths in Australia in 2000–2012.2 Ocular findings are present in about 40% of known cases and in 70% of deaths due to child abuse, and include retinal haemorrhages in any or all retinal layers, particularly when bilateral, multiple, and extending to the retinal periphery. Optic nerve sheath haemorrhages are also recognised. Circumferential macular folds with schisis cavities between the internal limiting membrane and the remaining retina were found in 23% of cases, and peripheral retinal folds in 16% of cases in a post mortem series.3

Phenotypes of genetic retinal disorders may include retinoschisis and retinal folds. Enhanced S‐cone syndrome is an autosomal recessive condition associated with mutations in NR2E3 that encodes the nuclear receptor subfamily 2, group E, member 3 protein (Online Mendelian Inheritance in Man [OMIM] #604485) responsible for cone photoreceptor differentiation. The mean age of symptom onset is four years. There is broad phenotypic variability; 41% of affected children have foveomacular schisis and 7% circumferential subretinal fibrosis.4 X‐linked juvenile retinoschisis is associated with mutations in RS1 (retinoschisin 1, OMIM #312700), responsible for the development and maintenance of retinal structure adhesion. Onset is in childhood, in some cases as early as three months of age, and phenotype is highly variable. Affected boys typically show foveomacular cartwheel retinoschisis. An X‐linked family history further raises suspicion. Subretinal fibrosis and retinal folds5 have also been described. Visual electrophysiology is frequently diagnostic and differentiates the two retinal conditions. Genetic testing with its improved diagnostic rate of up to 70% provides further supporting evidence.

In cases of suspected child abuse, acute retinal haemorrhages raise suspicion. After haemorrhage resolution, retinoschisis, subretinal fibrosis and retinal folds raise the possibility of late retinal findings of child abuse. If there is doubt regarding retinal diagnosis, detailed ophthalmic phenotyping, multimodal imaging, and visual electrophysiology combined with genetic testing can clarify diagnosis of an unexpected genetic disorder and avoid unnecessary forensic referrals.