Both individuals were born preterm and presented with prolonged neonatal respiratory distress, trichomegaly, early growth retardation, retinopathy and sparse depigmented hair. [ikm.ku.dk]

Visual acuity was 20/400 in the right eye and 20/100 in the left at initial presentation. Cycloplegic retinoscopy revealed refractive errors of −7.0 in both eyes. [ncbi.nlm.nih.gov]

In the adult human, the PNPLA6 expression is present in all tissues. [jns-journal.com]

He presented at 2 years of age with failure to thrive. At that time, he was noted to have long eyelashes (20 mm) with bushy eyebrows and sparse scalp hair. These features had been present at birth. [findzebra.com]

• Alopecia

  Alopecia became evident by age 3 and was almost complete by the early teens. Scalp biopsy showed a perifollicular lymphocyte infiltrate which was similar to that seen in alopecia areata. [findzebra.com]

  Systemic Features: Scalp alopecia and sparse body hair is common in spite of the trichomegaly of the eyebrows and eyelashes. Frontal bossing has been noted in some patients. [disorders.eyes.arizona.edu]

  Note scalp alopecia, bushy eye-brows, and trichomegaly.absence of facial hair persisted. He has notreproduced. [docslide.com.br]

  Symptoms - Trichomegaly with mental retardation- dwarfism and pigmentary degeneration of retina * Destruction of tear canals * Slow dentition * Poor vision * Pigmentary degeneration of retina * Different colored eyes * Hairy eyebrows * Hairy eyelashes * Alopecia [checkorphan.org]

  […] affecting different systems, the most prominent ones being anterior hypopituitarism, chorioretinal dystrophy, cerebellar dysfunction, upper or lower motor neuron disease and hair anomalies, as seen in this patient with very long eyelashes and scalp alopecia [jns-journal.com]

• Koilonychia

  Clinical: Prenatal onset growth failure; anterior pituitary deficiencies; peripheral neuropathy; mental retardation, sparse scalp hair, endocrinologic deficiencies, and koilonychias may be found. Sampson JR, Tolmie JL, Cant JS. [esanatos.com]

• Frontal Bossing

  Frontal bossing has been noted in some patients. Pituitary dysfunction is suggested by low growth hormone levels, features of hypogonadotropic hypogonadism, and possibly hypothyroidism. [disorders.eyes.arizona.edu]

  He was in the 3rd centile for height and 50th centile for weight, and had long eyelashes, bushy eyebrows, and frontal bossing. He also had hypogonadotropic hypogonadism, and testosterone injections had been commenced to induce puberty. [findzebra.com]

  bossing Hypoglycemia Coma Obesity Alopecia Hypothyroidism Micropenis Neuropathic arthropathy Urinary urgency Obstructive sleep apnea Abnormality of the pituitary gland Respiratory insufficiency Respiratory distress Pectus excavatum Fatigue Strabismus [mendelian.co]

• Gait Ataxia

  When examined at age 37, he gave a 2-year history of progressive gait ataxia, generalized clumsiness, and titubation of the head. Brain scan showed cerebellar atrophy and an empty sella. [findzebra.com]

  Titubation Waddling gait Progressive peripheral neuropathy Delayed puberty Spasticity Tics Tetraparesis Milia Facial palsy Shoulder girdle muscle atrophy Cerebellar hypoplasia Difficulty walking Gait disturbance Abnormal facial shape CNS hypomyelination [mendelian.co]

• Neurologic Manifestation

  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. [ikm.ku.dk]

  Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement (summary by Pierce et al., 2010 ). [mendelian.co]

• Female Sterility

  Human Ovulation inducer Induction Ovulation STH Female sterility Adenohypophyseal hormone Protein hormone Assisted procreation Keyword (es) Eficacia tratamiento Estudio caso Hembra Hombre Inductor ovulación Inducción Ovulación STH Esterilidad femenina [pascal-francis.inist.fr]

• Oliguria

  ▲ oligosynaptic oligothermic oligothymia oligotrichia oligotrophia oligotrophic oligotrophy oligotyping oligozoospermatism oligozoospermia oliguria olisthy oliva oliva inferior olivary olivary body olivary eminence olivary nucleus olivary peduncle olive [medical-dictionary.thefreedictionary.com]

• Lymphocytic Infiltrate

  Scalp biopsy showed a perifollicular lymphocyte infiltrate which was similar to that seen in alopecia areata. Distal muscle weakness and wasting, affecting particularly the lower limbs, progressed slowly during her first decade. [findzebra.com]

Treatment Treatment Options: No treatment is available for this condition although growth hormone and testosterone supplementation have been reported to have the appropriate selective effects. [disorders.eyes.arizona.edu]

Although macular scarring secondary to the CNV was observed, her vision has stabilised and she continues to be closely monitored. / Conclusion: We report the first case of CNV secondary to OMS and its successful treatment with intravitreal anti-vascular [discovery.ucl.ac.uk]

Material and Methods We describe the history, findings of clinical examination, retinal imaging and electrodiagnostic studies, and the treatment of a patient with CNV secondary to OMS. [x-mol.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Article Language English Keyword (fr) Efficacité traitement Etude cas Femelle Homme Inducteur ovulation Induction Ovulation STH Stérilité femelle Oliver-Macfarlane syndrome Hormone adénohypophysaire Hormone protéine Procréation assistée Keyword (en) Treatment [pascal-francis.inist.fr]

Prognosis - Trichomegaly with mental retardation- dwarfism and pigmentary degeneration of retina The \'prognosis\' of Oliver-McFarlane syndrome usually refers to the likely outcome of Oliver-McFarlane syndrome. [checkorphan.org]

The etiology is probably an autoimmune attack on the corneal epithelium. [ijem.in]

Relevant External Links for PNPLA6 Genetic Association Database (GAD) PNPLA6 Human Genome Epidemiology (HuGE) Navigator PNPLA6 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PNPLA6 No data available for Genatlas for PNPLA6 Gene Neuropathy [genecards.org]

Our database lists the following as having Oliver-McFarlane syndrome as a symptom of that condition: * Amaurosis hypertrichosis Prevention - Trichomegaly with mental retardation- dwarfism and pigmentary degeneration of retina Not supplied. [checkorphan.org]

This study was supported by an unrestrictedgrant from Research to Prevent Blindness.Inquiries to Robert A. [docslide.com.br]

[…] addition to the two main mutations found in recessive inheritance) or other genetic modifiers can influence the phenotype.32,33 A yearly multidisciplinary follow-up is recommended for these children with special attention given to kidney function and prevention [entokey.com]

Physical exercise can reduce the symptoms of ataxia, spasticity, and prevent contracture. [rarediseases.org]