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Rubinstein taybi syndrome
Rubinstein-Taybi syndrome is characterized by broad thumbs and first toes. The patient presented with V pattern exotropia, high myopia, retinal detachment in the right eye, and was diagnosed with Rubinstein-Taybi syndrome based on physical features. Ocular abnormalities are common in Rubinstein-Taybi syndrome and include strabismus, refractive errors, cataracts, and retinal issues. Regular eye exams are important to monitor for retinal and electrophysiological abnormalities that may occur or worsen over time in Rubinstein-Taybi syndrome patients.
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Rubinstein taybi syndrome
- 1. Case Preserntation Dr MdAfzal Mahfuzullah Long term Fellow Vitreo-Retina Department Chairman Dr Nazmun Naher Associate Professor cum Consultant Vitreo-Retina Department Ispahani Islamia Eye Institute & Hospital
- 2. • Arif Hossain •Age:07yrs • Student Chief Complaints : • Diminished of vision in right eye for 6 days • Alternate deviation of both eyes since birth Past History History of barrage laser in both eye due to peripheral retinal ischaemia & lattice
- 3. On first visiton 26th Sept 2010 In Paediatrics Department R/E L/E V/A FF FF Refraction -18 DSP/-2x180 DCYL -18 DSP/-2x180 DCYL Outcome:Orthoptic evaluation done & diagnosed as RXT /AXT (V Pattern) with fixing L/E :Deviation 60 prism D (krimsky method) Plan: EUA with VR evaluation .
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- 5. On 2nd visiton 12th february 2014 EUA done R/E L/E Refraction -14.OODSP/ - 1.OOx10 DCYL -16 DSP IOP (GAT) 13mm of Hg 15mm of Hg VR evaluation Peripheral retinal ischaemia with lattice & few degenerative change Peripheral retinal ischaemia with lattice & few degenerative change Out come:Diagnosed as pathological myopia with FEVR. Plan & advice: Barrage laser B/E done
- 6. On 3rd visiton 13th April 2015 R/E L/E V/A PL + 6/18 Ant segment Normal Normal Lens Transparent Transparent Fundus Bullous RD Peripharal lold laser mark with attached Retina
- 7. Preoperative Fundus picture RetCam Shuttle Pediatric Retinal Imaging System R/E L/E
- 8. Advice for • R/E:360 BB+PPV+PPL+PFCL+EL+SOI under G/A
- 9. Surgery was performedon 14th april • 360 BB+PPV+PPL+PFCL+EL+SOI under G/A • On Discharge: R/E L/E V/A Hm 6/18 Fundus Retina attached Retina attached
- 10. Post operative CFP(All quadrent) R/E Silicon oil filled with attached retina R/E
- 11. General Examination : •Patient is noncooperative, conscious, oriented Vital Parameters : • Blood pressure : 130/80 mm/Hg • Pulse : 84/min
- 12. External & ocularfeatures • External appearance: Mentally retarded • Ocular feature: • Hypertelorism • V pattern exotropia • Pathological Myopia • Retinal detachment
- 13. External & ocularfeatures Cont. Extroral feature revealed: Broad forehead Hypertelorism Broad nasal bridge Beaked nose
- 14. Intraroral feature revealed •Talons cusps in the upper lateral incisors • Carious teeth • High arched & narrow palate
- 15. Broad thumb &great toe
- 16. Neurological Examination: • Othercranial nerves – Normal • Motor System - Normal • Sensory System – Normal • Cerebellar system – Normal • Mentlly retarded Respiratory System: • Normal breath sounds heard • No added sounds Cardiovascular System: • S1 ,S2 heard • No murmur
- 17. •Hb : 12gm % •ESR : 12 mm after 1 hr •Platelet : 4.85 lakh/cumm •RBC : 4.27 million/cumm •RBS :98 mg/dl • PCV : 29 % •MCV : 68 fl •MCH : 20 pg • MCHC : 30 •TC: 12,300 cells/cumm N : 87 % E : 4 % , L : 9 % Chest X Ray – Normal Investigations
- 18. Differential Diagnosis • Rubinstein-Taybisyndrome. • Apert syndrome • Pfieffer syndrome
- 19. Provisional Diagnosis . Rubinstein-Taybi syndromeor Broad Thumb-Hallux syndrome
- 20. Discussion Rubinstein-Taybi Syndrome orBroad Thumb-Hallux syndrome
- 21. Discussion Cont • Firstdescribed by Michael et al in 1957 • In 1963 Rubenstein & Taybi reported 7 cases of this syndrome • Caused by microdelation at 16p13.3 or mutations in the CREB binding protein gene Incidence is about 1 in every 3000,000 newborns Incidence in male & female is equal Ref: Fang and Wang: Curr Eye Res 2008;33:517 (review). Read et al: Curr Opin Ophthalmol 2000;11:437 (review). Yamaki et al: Int Ophthalmol Clin 2002;42:13 (review)
- 22. Discussion Cont. Characteristics ofRubinstein-Taybi Syndrome Eye Strabismus ( V pattern exotropia), Refractive error s(High Myopia), Downward sloping palpebral fissure, Ptosis, Coloboma, cataracts, Nystagmus Orthopaedic Broad thumbs, & first toes, short stature, vertebral abnormalities Dental Crowding teeth,malocclusion,multiple caries,hypodontia,hyperdontia,telon cusps Cardiac Congenital heart defects Tumors Meningioma,neuroblastoma,meduloblastoma,oligodendrogly oma,seminoma with undescended testis Skin Keloids Sleep apnea Obstructive sleep apnea Ref: Al-Kharashi, Abu El-Asrar: Int Ophthalmol 2007;27:201 Abu El-Asrar et al: Eye 2008;22:1124
- 23. Related Article • Highmyopia V pattern esotropia and bilateral nasolacrimal duct obstruction in a child with Rubinstein-Taybi syndrome • Jyoti Matalia 1*, Chandrashekhar Kale 1, Meenakshi Bhat 2 • Authors affiliations: 1 Pediatric Ophthalmology and Strabismology Services, Narayana Nethralaya, Narayana Health City, Bommasandra, Hosur Road, Bangalore, India 2 Centre for Human Genetics, Biotech Park, 1st phase, Electronic city, Bangalore, India • Advances in Pediatric Research 2015, 2:4 Article type: Case Report • Summery: A female child of Indian origin with Rubinstein–Taybi syndrome with ocular features of convergent strabismus (V- pattern esotropia), bilateral high myopia and congenital nasolacrimal duct obstruction. This case report highlights the management and the final outcome about the variability of the ocular features, as well as the importance of an ocular examination in patients with Rubinstein–Taybi syndrome.
- 24. Related Article Cont. •Retinal detachment with high myopia in the Rubinstein-Taybi syndrome. • Marcus-Harel T1, Silverstone BZ, Seelenfreund M, Schurr D, Berson D. • Case Rep Dent. 2012; 2012: 483867. • Published online 2012 Sep 6. doi: 10.1155/2012/483867 • Summery: A case of rhegmatogenous retinal detachment with high myopia is presented in a 17 year old boy with the typical characteristics of the Rubinstein-Taybi syndrome.Multiple eye anomalies are known to occur in this syndrome, the occurrence of retinal detachment may be associated with this syndrome.The importance of including a thorough fundus examination in the routine eye examination of these patients is emphasized.
- 25. • Ocular featuresin Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature • Maria M van Genderena, Geert F Kindsa , Frans C C Riemslaga, Raoul C M Hennekamb • Dr R C M Hennekam, Department of Pediatrics, Academic Medical Centre, Meibergdreef 15, 1105 AZ Amsterdam, [email protected] • Accepted 26 April 2000 • Purpose: To delineate the nature and frequency of ocular pathology in Rubinstein-Taybi syndrome (RTs). . • Conclusions: Ocular abnormalities occur in the majority of RTs patients and can be remarkably diverse. The high frequency of retinal dysfunction (78%) may be associated .With age, retinal as well as electrophysiological abnormalities occur more frequently. Visual function tests and electrophysiological investigations should be performed in every RTs patient at regular intervals.
- 26. Take Home massage ˃Ocular abnormalities occur in the majority of RTs patients and can be remarkably diverse ˃ A thorough fundus examination in the routine eye examination of these patients is emphasized. ˃ Visual function tests and electrophysiological investigations & MRI should be performed in every RTs patient at regular intervals ˃ Proper counselling as well as symptomatic treatment is advised
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