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Grand Rounds Conference

Grand Rounds Conference. Janelle Fassbender , MD, PhD University of Louisville Department of Ophthalmology and Visual Sciences February 21, 2014. Subjective. CC: Rubbing eyes a lot and sensitive to sunlight

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Grand Rounds Conference

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  1. Grand Rounds Conference Janelle Fassbender, MD, PhD University of Louisville Department of Ophthalmology and Visual Sciences February 21, 2014

  2. Subjective CC:Rubbing eyes a lot and sensitive to sunlight HPI: 3 year old boy presents with light sensitivity and squinting since birth per mother.

  3. History POH: None PMH: Noonan syndrome Eye Meds: Artificial tears Meds: Zyrtecprn Allergies: NKDA FOH: Glaucoma (Grandmother)

  4. Objective OD OS VA: CSM CSM CRx: -0.5 + 0.75 x 090 -0.5 + 0.75 x 090 Pupils: 4 to 2 mm OU, no RAPD IOP: Soft Soft EOM: Full Full

  5. Objective SLE: External Low set ears, webbed neck Lids Fine cilia arising from meibomian glands all 4 eyelids Conjunctiva/Sclera Normal OU Cornea Clear OU Anterior Chamber Deep, quiet OU Iris Normal OU Lens Clear OU VitreousNormal OU

  6. Clinical Photographs Low-set ears Short, webbed neck

  7. Mock clinical photo Patil et al, 2004

  8. Differential Diagnosis • Distichiasis • Congenital • Acquired • Trichiasis

  9. Assessment 3 year old boy with symptomatic, congenital distichiasis.

  10. Operation • Initial procedure: Bilateral upper lid lash margin rotation with mucous membrane grafts (MMG). • Follow up procedure for lower eyelids.

  11. Operation Report Incision elongated across the horizontal extent of the posterior side of the gray line. The anterior lamellae of the eyelid was advanced to the superior margin of the tarsus and secured. Thin block of tarsus excised to remove lash follicles. Full-thickness buccal mucous membrane graft placed on the eyelid margin and sutured.

  12. Follow-up • Upper lid procedure follow-up • Post-op month 2 – Grafts healing well, new cilia arising through grafts • Procedure #2 • 2/13/14 – MMG bilateral lower lid

  13. Congenital distichiasis • Accessory cilia arise from meibomian gland orifices • Second month of gestation, cilia and meibomian glands differentiate. • Congenital distichiasis specialized sebaceous gland improperly differentiates into pilosebaceous unit • Acquired distichiasis Chronic irritation/inflammation • Patients may become symptomatic early in life • Hairs are fine, lanugo-like, and curl away from the globe

  14. Lymphedema-distichiasis syndrome • First described in 1899 by Kuhnt • Distichiasis with lower limb lymphedema • Autosomal dominant, mutation of FOXC2, chromosome 16q24.3 • Abnormal interaction between the lymphatic endothelial cells and pericytes, as well as valve defects (Petrova et al, 2004) • Ptosis (31%), congenital heart defects (6.8%), cleft palate (4%) (Brice et al, 2002) • 94.6% have distichiasis • 6 patients were under 11 yrs old and had not developed lymphedema (Brice et al, 2002) • 50% males symptomatic by age 11 • 50% females symptomatic by age 20

  15. Treatment of Distichiasis • Lubricants and soft contacts • Electrolysis, radiofrequency epilation or cryoepilation • Surgical options: • Lid splitting and posterior lamella cryosurgery (Anderson et al, 1981) • Eyelid splitting with excision (Vaughn et al, 1997) • Tarsal resection and mucous membrane grafting (White et al, 1975) • High rate of recurrence

  16. Noonan Syndrome • Prevalence: 1:1000 to 1:2500 live births • Mutations in genes of the RAS/MAPK signaling pathway • PTPN11 mutations (chromosome 12q24.1) – 50% patients • Characteristic facies: • Low-set ears, malar flattening, low hairline • Systemic manifestations: • Malignancy – hematologic, rhabdomyosarcoma, giant cell granulomas • Cardiac defects, short stature, hearing loss

  17. Noonan Syndrome continued • Orbital manifestations: • Downward-sloping palpebral fissures (38-74%), hypertelorism (57-74%), ptosis (48-51%), epicanthal folds (39%) • Refractive error (61%), strabismus (48%), amblyopia (33%), anterior segment changes (57-63%), abnormal fundoscopy (8-20%) • Lymphedema-distichiasis masquerade? • Pterygiumcolli as a feature of 10 individuals from 5 generations (Falls and Kertesz, 1964) • 2 females considered to have Turner syndrome, found to have distichiasis with peripubertal onset lymphedema (Toro et al, 1991)

  18. Example

  19. References • Dagenais SL, et al. 2004. FOXC2 is expressed in developing lymphatic vessels and other tissues associated with lymphedema-distichiasis syndrome. Gene Expression Patterns, 4: 611-19. • Sola P, et al. 1991. Distichiasis-lymphedema syndrome and the Turner phenotype. Medical association of Puerto Rico Bulletin, 83(12): 543-544. • Randolph JR, et al. 2011. Orbital manifestations of Noonan Syndrome. OphthalPlastReconstrSurg, 27(6): e160-163. • Fang, J, et al. 2000. Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. Am J Hum Genet, 67:1382–8. • Brice G, et al. 2002. Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. J Med Genet, 39:478–83. • Patil BB, et al. 2004. Distichiasis without lymphoedema.Eye, 18:1270-1272. • Falls and Kertesz. 1964. A new syndrome combining pterygiumcolli with developmental abnormalities of the eyelids and lymphatics of the lower extremities. Trans Am OphthalmolSoc, 62:248-272.

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