Research & Literature

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

Kmoch S, Majewski J, Ramamurthy V, et al.

Nature communications 2015; (6()):5614 doi:10.1038/ncomms6614.

Delayed Induction of Human NTE (PNPLA6) Rescues Neurodegeneration and Mobility Defects of Drosophila swiss cheese (sws) Mutants.

Sujkowski A, Rainier S, Fink JK, Wessells RJ

PloS one 2015; (10(12)):e0145356 doi:10.1371/journal.pone.0145356.

Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.

Wiethoff S, Bettencourt C, Paudel R, et al.

Cerebellum (London, England) 2017; (16(1)):262-267 doi:10.1007/s12311-016-0769-x.

The PNPLA-family phospholipases involved in glycerophospholipid homeostasis of HeLa cells.

Hermansson M, Hänninen S, Hokynar K, Somerharju P

Biochimica et biophysica acta 2016; (1861(9 Pt A)):1058-1065 doi:10.1016/j.bbalip.2016.06.007.

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.

Eyelash Trichomegaly: A Rare Presenting Feature of Systemic Lupus Erythematosus.

Dalal A, Sharma S, Kumar A, Sharma N

International journal of trichology 2017; (9(2)):79-81 doi:10.4103/ijt.ijt_59_16.

Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.

Teive HAG, Camargo CHF, Sato MT, et al.

Cerebellum (London, England) 2018; (17(3)):380-385 doi:10.1007/s12311-017-0909-y.

Eyelash length for the diagnosis of atopic dermatitis and ichthyosis vulgaris in children-a case control study.

Singh M, Pawar M

European journal of pediatrics 2018; (177(6)):955-960 doi:10.1007/s00431-018-3152-8.

Central adrenal insufficiency in children and adolescents.

Patti G, Guzzeti C, Di Iorgi N, et al.

Best practice & research. Clinical endocrinology & metabolism 2018; (32(4)):425-444 doi:10.1016/j.beem.2018.03.012.

Central adrenal insufficiency: open issues regarding diagnosis and glucocorticoid treatment.

Ceccato F, Scaroni C

Clinical chemistry and laboratory medicine 2019; (57(8)):1125-1135.

Emergency management of adrenal insufficiency in children: advocating for treatment options in outpatient and field settings.

Miller BS, Spencer SP, Geffner ME, et al.

Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2020; (68(1)):16-25 doi:10.1136/jim-2019-000999.

Diagnosis and management of hypopituitarism.

Yeliosof O, Gangat M

Current opinion in pediatrics 2019; (31(4)):531-536 doi:10.1097/MOP.0000000000000779.

Adrenal crisis: prevention and management in adult patients.

Dineen R, Thompson CJ, Sherlock M

Therapeutic advances in endocrinology and metabolism 2019; (10()):2042018819848218 doi:10.1177/2042018819848218.

Long-term Response to Recombinant Human Growth Hormone Therapy in Indian Children with Growth Hormone Deficiency.

Gahlot M, Goyal A, Singh AKC, et al.

Indian journal of endocrinology and metabolism 2019; (23(4)):446-451 doi:10.4103/ijem.IJEM_300_19.

Characterization of the Interaction of Neuropathy Target Esterase with the Endoplasmic Reticulum and Lipid Droplets.

Chang P, He L, Wang Y, et al.

Biomolecules 2019; (9(12)) doi:10.3390/biom9120848.

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.

Differential diagnosis between constitutional delay of growth and puberty, idiopathic growth hormone deficiency and congenital hypogonadotropic hypogonadism: a clinical challenge for the pediatric endocrinologist.

Galazzi E, Persani LG

Minerva endocrinologica 2020; (45(4)):354-375 doi:10.23736/S0391-1977.20.03228-9.

Delayed puberty.

Butler G, Purushothaman P

Minerva pediatrica 2020; (72(6)):484-490 doi:10.23736/S0026-4946.20.05968-X.

Identification of Oliver-McFarlane syndrome caused by novel compound heterozygous variants of PNPLA6.

Liu F, Ji Y, Li G, et al.

Gene 2020; (761()):145027 doi:10.1016/j.gene.2020.145027.

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.

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.

Loss of swiss cheese in Neurons Contributes to Neurodegeneration with Mitochondria Abnormalities, Reactive Oxygen Species Acceleration and Accumulation of Lipid Droplets in Drosophila Brain.

Melentev PA, Ryabova EV, Surina NV, et al.

International journal of molecular sciences 2021; (22(15)) doi:10.3390/ijms22158275.

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.

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.

Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline.

Nordenström A, Ahmed SF, van den Akker E, et al.

European journal of endocrinology 2022; (186(6)):G9-G49 doi:10.1530/EJE-22-0073.

Approach to inherited retinal diseases.

Ratra D, Ozdek S, Raviselvan M, et al.

Indian journal of ophthalmology 2022; (70(7)):2305-2315 doi:10.4103/ijo.IJO_314_22.

The alteration of the expression level of neuropathy target esterase in human neuroblastoma SK-N-SH cells disrupts cellular phospholipids homeostasis.

Hou WY, Song X, Wang Y, et al.

Toxicology in vitro : an international journal published in association with BIBRA 2023; (86()):105509 doi:10.1016/j.tiv.2022.105509.

[Puberty induction in boys with congenital isolated hypogonadotropic hypogonadism].

Kokoreva KD, Chugunov IS, Kareva MA, Bezlepkina OB

Problemy endokrinologii 2023; (69(1)):59-67 doi:10.14341/probl13141.

[A case of Oliver-McFarlane syndrome caused by PNPLA6 gene mutation].

Shi J, Zhang X, Xu K, et al.

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology 2023; (59(6)):484-487 doi:10.3760/cma.j.cn112142-20220627-00316.

Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders.

Liu J, He Y, Lwin C, et al.

bioRxiv : the preprint server for biology 2023; doi:10.1101/2023.06.09.544373.

The Extraordinary Phenotypic and Genetic Variability of Retinal and Macular Degenerations: The Relevance to Therapeutic Developments.

Audo I, Nassisi M, Zeitz C, Sahel JA

Cold Spring Harbor perspectives in medicine 2024; (14(6)) doi:10.1101/cshperspect.a041652.

PNPLA6 disorders: what's in a name?

Liu J, Hufnagel RB

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

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.

Liu J, He Y, Lwin C, et al.

Brain : a journal of neurology 2024; (147(6)):2085-2097 doi:10.1093/brain/awae055.

Treatment and Prevention of Adrenal Crisis and Family Education

Çamtosun E, Sangün Ö

Journal of clinical research in pediatric endocrinology 2025; (17(Suppl 1)):80-92 doi:10.4274/jcrpe.galenos.2024.2024-6-12-S.

Eyelash trichomegaly complicating pembrolizumab for colorectal cancer.

Alevizopoulos N, Alexandris D

Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners 2025; (31(5)):842-845 doi:10.1177/10781552241313037.

PNPLA6 regulates retinal homeostasis by choline through phospholipid turnover.

Ono T, Taketomi Y, Higashi T, et al.

Nature communications 2025; (16(1)):2221 doi:10.1038/s41467-025-57402-8.

"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.

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.

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.

Novel PNPLA6 Variants: Hypogonadotropic Hypogonadism, Pituitary Hypoplasia, Anosmia, and Cerebellar Atrophy in Siblings.

Hussain MA, Kumar V, Chapla A, et al.

JCEM case reports 2026; (4(1)):luaf286 doi:10.1210/jcemcr/luaf286.

Pituitary Magnetic Resonance Imaging as a Prognostic Factor of Pituitary Insufficiency-The Follow-Up Analysis of a Cohort of Children With Pituitary Stalk Interruption Syndrome.

Chrzanowska J, Jacków-Nowicka J, Bodetko A, et al.

Clinical endocrinology 2026; (105(2)):231-236 doi:10.1111/cen.70129.

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.

Homozygous PNPLA6 Mutation (p.Arg1183Trp) Associated With Isolated Cerebellar Ataxia: A Familial Case Report.

Alawadhi A, Almarzooqi A, Khan M, Alrukn S

Cureus 2026; (18(4)):e107039 doi:10.7759/cureus.107039.

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.

Advancing the Utility of Low-Vision Aids in the Rehabilitation of Vision in Unclassified Macular Dystrophy: A Report of a Rare Disease.

Seelan Samuel S, Kumaran SL, Bhattacharya S, et al.

Cureus 2026; (18(5)):e109228 doi:10.7759/cureus.109228.

Compound Heterozygous Variants in the Phospholipase Gene PNPLA6 Cause Hypopituitarism and Vision Loss.

Vishnopolska S, Liu J, Camilletti MA, et al.

Human mutation 2026; (2026()):4515038 doi:10.1155/humu/4515038.

Global Patterns of Visual Disability and Low Vision Aid Prescription: A Systematic Review.

Verma V, Gupta S, Singh P, et al.

Cureus 2026; (18(7)):e113756 doi:10.7759/cureus.113756.

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.

Current perspectives on the pharmacologic treatment of boys and adolescents with congenital hypogonadotropic hypogonadism.

Rey RA, Grinspon RP

Expert opinion on pharmacotherapy 2026; 1-13 doi:10.1080/14656566.2026.2741490.

Benchmarking of growth hormone therapy in Hong Kong: ten-year data from the multi-centre GROWTH study.

Fu A, Alimussina M, Anderson J, et al.

Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society 2026; (85()):101727 doi:10.1016/j.ghir.2026.101727.