Case Preserntation Dr Md Afzal Mahfuzullah

Long term Fellow Vitreo-Retina Department

Chairman Dr Nazmun Naher

Associate Professor cum ConsultantVitreo-Retina Department

Ispahani Islamia Eye Institute & Hospital

• Arif Hossain • Age:07yrs • StudentChief 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

On first visit on 26th Sept 2010In Paediatrics Department

R/E L/EV/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 .

Orthoptic evaluation 0n 2010

On 2nd visit on 12th february 2014 EUA doneR/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

On 3rd visit on 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

Preoperative Fundus picture Ret Cam Shuttle Pediatric Retinal Imaging System

R/E L/E

Advice for

• R/E: 360 BB+PPV+PPL+PFCL+EL+SOI under G/A

Surgery was performed on 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

Post operative CFP (All quadrent) R/ESilicon oil filled with attached retina R/E

General Examination :

• Patient is noncooperative, conscious, oriented

Vital Parameters :• Blood pressure : 130/80 mm/Hg• Pulse : 84/min

External & ocular features

• External appearance: Mentally retarded• Ocular feature:• Hypertelorism

• V pattern exotropia

• Pathological Myopia

• Retinal detachment

External & ocular features Cont.

Extroral feature revealed:

Broad forehead

Hypertelorism

Broad nasal bridge

Beaked nose

Intraroral feature revealed

• Talons cusps in the upper lateral incisors

• Carious teeth

• High arched & narrow palate

Broad thumb & great toe

Neurological Examination:

• Other cranial 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

•Hb : 12 gm %•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

Differential Diagnosis

• Rubinstein-Taybi syndrome.

• Apert syndrome

• Pfieffer syndrome

Provisional Diagnosis

. Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome

Discussion

Rubinstein-Taybi Syndrome or Broad Thumb-Hallux syndrome

Discussion Cont

• First described 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)

Discussion Cont.Characteristics of Rubinstein-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,oligodendroglyoma,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

Related Article• High myopia 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, India2 Centre for Human Genetics, Biotech Park, 1st phase, Electronic city, Bangalore, India• Advances in Pediatric Research 2015, 2:4Article 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.

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.

• Ocular features in 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, Netherlandsr.c.hennekam@amc.uva.nl

• 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.

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

• .