Oliver McFarlane syndrome: two new cases and a review of the literature

• Published in: Ophthalmic genetics 2021-08, Vol.42 (4), p.464-473
• Main Authors: Lisbjerg, Kristian, Andersen, Mette K G, Bertelsen, Mette, Brost, Agnes G, Buchvald, Frederik F, Jensen, Rikke B, Bisgaard, Anne-Marie, Rosenberg, Thomas, Tümer, Zeynep, Kessel, Line
• Format: Article
• Language: English
• Subjects: Acyltransferases - genetics; Adult; Blepharoptosis - diagnosis; Blepharoptosis - genetics; Blepharoptosis - physiopathology; Child, Preschool; Developmental Disabilities - diagnosis; Developmental Disabilities - genetics; Developmental Disabilities - physiopathology; Dwarfism - diagnosis; Dwarfism - genetics; Dwarfism - physiopathology; Female; Follow-Up Studies; Genetic Association Studies; High-Throughput Nucleotide Sequencing; Humans; Hypertrichosis - diagnosis; Hypertrichosis - genetics; Hypertrichosis - physiopathology; Intellectual Disability - diagnosis; Intellectual Disability - genetics; Intellectual Disability - physiopathology; Male; Phospholipases - genetics; Retinitis Pigmentosa - diagnosis; Retinitis Pigmentosa - genetics; Retinitis Pigmentosa - physiopathology; Tomography, Optical Coherence; Visual Acuity - physiology; Visual Field Tests; Visual Fields - physiology; Whole Exome Sequencing
• ISSN: 1381-6810; 1744-5094
• DOI: 10.1080/13816810.2021.1904419

Oliver McFarlane syndrome is a rare syndrome. Clinical presentations include trichomegaly, chorioretinal degeneration, pituitary hormone deficits, and neurological manifestations. Genetic analysis has recently placed this syndrome within the group of -related disorders. Here, we describe two new individuals and review the previously published cases. Clinical investigations were carried out in accordance with local guidelines and clinical information was retrieved from medical records. Genetic studies were carried out using next-generation sequencing based clinical exome sequencing. A PubMed literature search was performed with a review of the published clinical cases of Oliver McFarlane syndrome. Our first individual was a 36-year-old woman with 32 years of follow up and our second individual was a 3-year-old boy. Both individuals were born preterm and presented with prolonged neonatal respiratory distress, trichomegaly, early growth retardation, retinopathy and sparse depigmented hair. So far, none of our cases have demonstrated cognitive impairment or progressive neurological symptoms, but the child revealed persistent abnormal lung structure. Both individuals were compound heterozygous for pathogenic variants, one of which was novel. We found other 31 clinically documented published cases. Our two new unrelated cases of Oliver McFarlane Syndrome demonstrate early ophthalmological and systemic findings of this rare syndrome and the progressive nature of the retinopathy with a long follow-up. -related disorders are a phenotypically highly heterogenous group where alterations in the phosphatidylcholine metabolism can lead to manifestations in different tissues with no clear genotype-phenotype correlation.