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PubMed This is a summary of 50 peer-reviewed journal articles Updated
Medical Genetics · Oliver-McFarlane Syndrome

Oliver-McFarlane Syndrome: A Patient Guide

At a Glance

Oliver-McFarlane syndrome is a rare inherited condition caused by changes in the PNPLA6 gene. It can affect vision, growth, and hormones; care focuses on monitoring, hormone replacement when needed, vision aids, and support for daily independence.

Oliver-McFarlane Syndrome is an exceptionally rare genetic condition that primarily affects a child’s growth, vision, and physical development. For many parents, the first noticeable sign is the striking length and thickness of their child’s eyelashes—a feature called trichomegaly—which often appears alongside slower physical growth and thin or sparse scalp hair [1][2]. While these physical characteristics are the most visible markers, the syndrome is fundamentally defined by how it affects the body’s internal systems over time, particularly the eyes and the hormone-producing glands [3][4].

At its core, this syndrome is part of a spectrum of conditions caused by changes in the PNPLA6 gene. This gene is responsible for maintaining the health of various cells, and when it does not function correctly, it leads to the progressive changes seen in the retina and the pituitary gland [5][6]. Because it is an autosomal recessive condition, it is something a child inherits from both parents, who are usually carriers and do not show symptoms themselves [5]. Understanding this genetic foundation has allowed doctors to move toward a more focused approach that addresses the specific needs of the PNPLA6 spectrum [7]. It is important to know that OMS is a variable condition; while older labels such as “dwarfism” and “growth retardation” are historical, poor growth is common. Care treats the complications rather than correcting the gene itself.

Living with Oliver-McFarlane Syndrome involves managing two primary challenges: a gradual decline in vision due to retinal degeneration and the management of multiple hormone deficiencies [2][8]. Children often experience night blindness and a loss of peripheral vision, while a lack of growth and pubertal hormones can delay physical development [9][3]. There is no established treatment that reverses the retinal degeneration, but medical teams can intervene early with supportive therapies—such as growth hormone replacement and specialized vision aids—to help improve function and participation in daily life [10][11].

While the rarity of the diagnosis can feel isolating, it also means your child’s care will be highly personalized. By surrounding your child with a multidisciplinary team of specialists who understand the PNPLA6 connection, you can navigate these challenges with clearer expectations [12][13]. The focus of modern care is not just on managing symptoms, but on providing early detection and supportive treatment that may improve your child’s quality of life and independence.

In this guide

6 chapters

01

Understanding Oliver-McFarlane Syndrome (OMS)

Learn about Oliver-McFarlane Syndrome, including long eyelashes, retinal degeneration, short stature, PNPLA6 inheritance, hormone testing, and vision checks.

02

Symptoms and Early Signs of OMS

Learn the early signs of Oliver-McFarlane syndrome, including trichomegaly, night blindness, slow growth, hormone problems, and developmental changes in children.

03

Genetics and the PNPLA6 Spectrum

Learn how Oliver-McFarlane syndrome relates to PNPLA6 variants, recessive inheritance, carrier testing, related disorders, and why symptoms can differ.

04

Managing Hormone and Growth Deficiencies

Learn how Oliver-McFarlane syndrome affects growth, adrenal hormones, puberty, and fertility: growth hormone, hydrocortisone, monitoring, and emergency care.

05

Navigating Retinal Degeneration and Vision Care

Learn how Oliver-McFarlane syndrome affects vision, including retinal degeneration, eye monitoring, urgent CNV symptoms, and low-vision support for children.

06

Building Your Care Team and Long-Term Monitoring

Learn how Oliver-McFarlane syndrome care teams monitor vision, hormones, movement, and development, and plan lifelong follow-up and adult care for your child.

Common questions in this guide

What is Oliver-McFarlane syndrome?
Oliver-McFarlane syndrome is a very rare inherited condition caused by changes in the PNPLA6 gene. It can affect a child's eyelashes and hair, growth, vision, hormone production, and physical development, and its features vary from child to child.
How is Oliver-McFarlane syndrome inherited?
The condition follows an autosomal recessive inheritance pattern, meaning a child inherits a changed copy of the relevant gene from both parents. Parents who carry one changed copy usually do not have symptoms themselves, and a genetics professional can explain what this means for the family.
What vision problems can happen with Oliver-McFarlane syndrome?
Children may develop retinal degeneration, night blindness, and gradual loss of peripheral vision. No established treatment reverses the retinal changes, but early monitoring and specialized vision aids may support safety, learning, and daily activities.
How can Oliver-McFarlane syndrome affect growth and puberty?
The condition can cause poor growth and deficiencies in growth or pubertal hormones, which may delay physical development. A pediatric endocrinology team can monitor hormone levels and consider treatments such as growth hormone replacement when appropriate.
Which specialists help care for a child with Oliver-McFarlane syndrome?
Care is usually personalized and may involve medical genetics, pediatric ophthalmology, pediatric endocrinology, and primary pediatric care. A lead clinician or care coordinator can help organize appointments and connect the different parts of the treatment plan.
How can families support a child with Oliver-McFarlane syndrome at school and home?
Families can work with the care team and school to provide vision supports, address growth and developmental needs, and watch for changes in vision or hormone-related symptoms. Building on the child's strengths and interests can also support participation, confidence, and independence.

Get notified when new evidence is published on Trichomegaly-retina pigmentary degeneration-dwarfism syndrome.

We monitor PubMed for new peer-reviewed studies on this topic and email a short summary when something meaningful changes.

References

References (13)
  1. 1

    Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes.

    Hutchison DM, Duffens A, Yale K, et al.

    Journal of the European Academy of Dermatology and Venereology : JEADV 2022; (36(4)):536-546 doi:10.1111/jdv.17877.

    PMID: 34919300
  2. 2

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

    Lisbjerg K, Andersen MKG, Bertelsen M, et al.

    Ophthalmic genetics 2021; (42(4)):464-473 doi:10.1080/13816810.2021.1904419.

    PMID: 33818269
  3. 3

    New insights into Oliver-McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair.

    Du C, Yu T, Liu S, et al.

    Journal of pediatric endocrinology & metabolism : JPEM 2026; (39(6)):622-627 doi:10.1515/jpem-2025-0731.

    PMID: 41846525
  4. 4

    Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up.

    Xiao P, Gu Y, Qi X, et al.

    Frontiers in genetics 2025; (16()):1693876 doi:10.3389/fgene.2025.1693876.

    PMID: 41321566
  5. 5

    Case Report: Novel compound heterozygous mutations in PNPLA6 gene associated with Oliver-McFarlane syndrome.

    Zheng J, Wang Z, Li K, et al.

    Frontiers in genetics 2025; (16()):1660243 doi:10.3389/fgene.2025.1660243.

    PMID: 41282473
  6. 6

    PNPLA6 disorders: what's in a name?

    Liu J, Hufnagel RB

    Ophthalmic genetics 2023; (44(6)):530-538 doi:10.1080/13816810.2023.2254830.

    PMID: 37732399
  7. 7

    Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature.

    Nanetti L, Di Bella D, Magri S, et al.

    Frontiers in neurology 2021; (12()):793547 doi:10.3389/fneur.2021.793547.

    PMID: 35069422
  8. 8

    Fertility outcomes and management of long-term pubertal testosterone replacement sequelae in Oliver-McFarlane syndrome: a case report and literature review.

    Moshe S, Dekel Y, Oron G, Kabha M

    AME case reports 2026; (10()):116 doi:10.21037/acr-2026-0024.

    PMID: 42299415
  9. 9

    Novel variants in PNPLA6 causing syndromic retinal dystrophy.

    Wu S, Sun Z, Zhu T, et al.

    Experimental eye research 2021; (202()):108327 doi:10.1016/j.exer.2020.108327.

    PMID: 33141049
  10. 10

    Treatment of growth hormone deficiency in children, adolescents and at the transitional age.

    Richmond E, Rogol AD

    Best practice & research. Clinical endocrinology & metabolism 2016; (30(6)):749-755 doi:10.1016/j.beem.2016.11.005.

    PMID: 27974188
  11. 11

    "My child can't see"-workup and management of children with low vision: a joint workshop of the AAPOS Low Vision Rehabilitation and Genetic Eye Diseases Committees.

    Ditta L, Utz VM, Chandna A, et al.

    Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2025; (29(3)):104229 doi:10.1016/j.jaapos.2025.104229.

    PMID: 40441479
  12. 12

    Oliver McFarlane syndrome and choroidal neovascularisation: a case report.

    Makuloluwa AK, Dodeja R, Georgiou M, et al.

    Ophthalmic genetics 2020; (41(5)):451-456 doi:10.1080/13816810.2020.1783689.

    PMID: 32586184
  13. 13

    PNPLA6-related syndromic retinal dystrophy: A genetically confirmed case of Boucher-Neuhauser syndrome from the Kingdom of Bahrain.

    Almohsen MA, Alasal AE, Jamal HF

    Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society 2026; (40(3)):314-317 doi:10.4103/sjopt.sjopt_223_24.

    PMID: 42757075

This page provides educational information about Oliver-McFarlane syndrome and is not medical advice. Your child's genetics, ophthalmology, and endocrinology teams can interpret symptoms and plan care for your child's needs.