Oliver McFarlane syndrome: two new cases and a review of the literature.
Ophthalmic Genet
; 42(4): 464-473, 2021 08.
Article
en En
| MEDLINE
| ID: mdl-33818269
ABSTRACT
BACKGROUND:
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 PNPLA6-related disorders. Here, we describe two new individuals and review the previously published cases. MATERIALS ANDMETHODS:
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.RESULTS:
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 PNPLA6 variants, one of which was novel. We found other 31 clinically documented published cases.CONCLUSIONS:
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. PNPLA6-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.Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Fosfolipasas
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Blefaroptosis
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Aciltransferasas
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Retinitis Pigmentosa
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Enanismo
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Hipertricosis
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Discapacidad Intelectual
Tipo de estudio:
Diagnostic_studies
/
Guideline
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Idioma:
En
Revista:
Ophthalmic Genet
Asunto de la revista:
GENETICA MEDICA
/
OFTALMOLOGIA
Año:
2021
Tipo del documento:
Article