Phakomatosis syndrome are defined as a group of multisystem syndromes that have characteristic ophthalmic manifestations. They have familial incidence and congenital basis, having varied ocular profile of presentation, with some of them having serious ocular morbidity. Key features include retinal and uveal lesions. The common factor joining this group of disorder are presence of neurological, ophthalmological and cutaneous manifestations. All patients diagnosed with phakomatosis should be referred for neurocutaneous consultation, spinal cord imaging, neuroimaging and Electroencephalogram.

Most of the cases are reported from far East countries especially Japan, Mexico or Argentina. On the first week of February 2015 a male patient aged 15years,residing in Kishanganj district, Bihar came to visit our Ophthalmology OPD of M.G.M Medical College and Hospital, Kishanganj, Bihar with no vision since birth in both eyes. It was a rare case because he had adenoma sebaceum in his face.He was of low intelligence with no history of epilepsy. On slit lamp examination we found that he had ectropion uvea, microphthalmos, horizontal nystagmus and congenital cataract in his left eye and Phthisis bulbi, congenital cataract with horizontal nystagmus in his right eye

Keywords: Phakomatosis, adenoma sebaceum, ectropion uvea, microopthalmos, nystagmus, phthisis bulbi.

1. Rodrigues DA, Gomes CM, Costa IMC. Tuberous sclerosis complex. An Bras Dermatol. 2012;87:184–196. 
2. Hinton RB, Prakash A, Romp RL, Krueger DA, Knilans TK, International Tuberous Sclerosis Consensus Group Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International Tuberous Sclerosis Consensus Group.J Am Heart Assoc. 2014;3:e001493. 
3. Northrup H, Krueger DA, International Tuberous Sclerosis Complex Consensus Group Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference.Pediatr Neurol. 2013 Oct;49(4):243–254. 
4. Sadowski K, Kotulska K, Schwartz RA, Józwiak S. Systemic effects of treatment with mTOR inhibitors in tuberous sclerosis complex: a comprehensive review.J Eur Acad Dermatol Venereol. 2016;30:586–594.
5. DiMario Jr FJ, Sahin M, Ebrahimi-Fakhari D. Tuberous Sclerosis Complex.Pediatr Clin North Am. 2015;62:633–648.
6. Jacks SK, Witman PM. Tuberous Sclerosis Complex: An Update for Dermatologists. Pediatr Dermatol. 2015;32:563–570. 
7. Mac Keigan JP, Krueger DA. Differentiating the mTOR inhibitors everolimus and sirolimus in the treatment of tuberous sclerosis complex.Neuro Oncol. 2015; 17:1550–1559. 
8. Ng KH, Ng SM, Parker A. Annual review of children with tuberous sclerosis.Arch Dis Child Educ Pract Ed. 2015;100:114–121. 
9. Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, et al. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.Genet Med. 2007;9:88–100. 
10. Wheless JW, Almoazen H. A novel topical rapamycin cream for the treatment of facial angiofibromas in tuberous sclerosis complex. J Child Neurol. 2013;28:933-6.
11. Koenig MK, Hebert AA, Roberson J, Samuels J, Slopis J, Woerner A, et al. Topical rapamycin therapy to alleviate the cutaneous manifestations of tuberous sclerosis complex: a double-blind, randomized, controlled trial to evaluate the safety and efficacy of topically applied rapamycin. Drugs R D. 2012;12:121-6.
12. Weiss ET, Geronemus RG. New Technique Using Combined Pulsed Dye Laser and Fractional Resurfacing for Treating Facial Angiofibromas in Tuberous Sclerosis. Lasers Surg Med. 2010;42:357-60.
13. Li S, Takeuchi F, Wang JA, Fan Q, Komurasaki T, Billings EM, et al. Mesenchymalepithelial interactions involving epiregulin in tuberous sclerosis complex hamaratomas. Proc Natl Acad Sci U S A. 2008;105:3539-44.
14. Davies DM, de Vries PJ, Johnson SR, McCartney DL, Cox JA, Serra AL, et al. Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial. Clin Cancer Res. 2011;17:4071-81.
15. Franz DN, Agricola K, Mays M, Tudor C, Care MM, Holland-Bouley K, et al. Everolimus forsubependymal giant cell astrocytoma: 5-year final analysis. Ann Neurol. 2015;78:929-38.
16. French JA, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, et al. Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo controlled study. 2016;388:2153-63.
17. Franz DN, Belousova E, Sparagana S, Bebin EM, Frost M, Kuperman R, et al. Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. 2013;381:125-32.
18. Bissler JJ, Kingswood JC, Radzikowska E, Zonnenberg BA, Frost M, Belousova E, et al. Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial. 2013;381:817-24.
19. Kingswood JC, d’Augères GB, Belousova E, Ferreira JC, Carter T, Castellana R, et al. Tuberous Sclerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients. Orphanet J Rare Dis. 2017;12:2.
20. Kotulska K, Chmielewski D, Borkowska J, Jurkiewicz E, Kuczyński D, Kmieć T, et al. Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex. Eur J Paediatr Neurol. 2013;17:479-85.
21. gov.br [Internet]. Afinitor. Drug leaflet. Suíça: Novartis Pharma Stein AG. [cited 2018 Mar 14]. Available in: http://anvisa.gov.br/datavisa/fila_bula/ frmVisualizarBula.asp?pNuTransacao=6303092015&pIdAnexo=2744450.
22. gov.br [Internet]. Rapamune. Drug leaflet. Irlanda: Pfizer Ireland Pharmaceuticals. [cited 2018 Mar 14]. Available in: http://www.anvisa.gov.br/datavisa/fila_bula/frmVisualizarBula. asp?pNuTransacao=11519742017&pIdAnexo=7326672.
23. Nathan N, Wang JA, Li S, Cowen EW, Haughey M, Moss J, et al. Improvement of tuberous sclerosis complex skin tumors during long-term treatment with oral sirolimus. J Am Acad Dermatol. 2015;73802-8.
24. Bissler JJ, Kingswood JC. Optimal treatment of tuberous sclerosis complex associated renal angiomyolipomata: a systematic review. Ther Adv Urol. 2016;8:279-290.
25. Switon K, Kotulska K, Janusz-Kaminska A, Zmorzynska J, Jaworski J. Tuberous Sclerosis Complex: From Molecular Biology to Novel Therapeutic Approaches. IUBMB Life. 2016;68:955-62.
26. Kotulska K, Borkowska J, Jozwiak S. Possible prevention of tuberous sclerosis complex lesions. 2013;132:e239-42.

Raktima Baksi (Mandal)

RMO-CT (Tutor), Dept. of Ophthalmology, Rampurhat Government Medical College, Birbhum