Blepharophimosis Ptosis Epicanthus inversus Syndrome (BPES)

This presentation talks about Blepahrophimosis Epicanthus Inversus Syndrome (BPES) via a short case description followed by discussion.

1. PRESENTER Dr. AYUSHI AGARWAL MODERATORS Dr. SUSHIL KUMAR Dr. RUCHI GOEL BPES

2. Patient Profile Chief Complaints 2 Name – Mohammed Rehan Age/Sex – 6yr/Male child Resident of Noida, U.P. (Informant – Mother) C/o small eyes associated with drooping of B/E Upper lids since birth No history of similar complaints in the family No history of trauma No history of previous surgery No history of fever No significant past/treatment history Birth History : full term, normal vaginal delivery (FTNVD) at hospital Immunization history: Fully immunized

3. FAMILY TREE 3 4yrs 6yrs

4. EXAMINATION Patient was conscious, well oriented to time, place and person General Physical Examination: Vitals : Stable Average built, No e/o Pallor/Lymphadenopathy/Icterus/Clubbing/Cyanosis/Edema Systemic Examination: Grossly Within Normal Limit 4

5. LOCAL EXAMINATION Parameter Right Eye Left Eye BCVA 6/18 (Aided) 6/12 (Aided) Head Posture & Facial symmetry Chin lift present Chin lift present Forehead Forehead crease + Forehead crease + Eyebrows Frontalis overaction + Frontalis overaction + Orbit No discontinuity/tenderness No discontinuity/tenderness 5 -3.75 - 2.75 150 -1 180

6. Right Left Left Epicanthus inversus + Epicanthus inversus + Epicanthus inversus + Marginal Reflex Distance 1 (MRD 1 ) - 3 mm -3mm -3mm Marginal Reflex Distance 2 ( MRD 2 ) 5mm 5mm 5mm Vertical palpebral Aperture (VPA) - Up-gaze - Primary - Down-gaze 2mm 2mm 3mm 2mm 2mm 3mm 2mm 2mm 3mm Levator Palpebrae Superioris (LPS) 1mm 1mm 1mm Lid Crease Absent Absent Absent Horizontal Palpebral Fissure Length (HPFL) 21mm 21mm 22mm Inner Canthal Distance (ICD) 35mm Outer Canthal Distance (OCD) 77mm Inter Pupillary Distance (IPD) 50mm Bells Phenomenon good good Marcus Gunn Jaw Winking Phenomenon (MGJWP) NIL NIL EYELID EXAMINATION 6

7. Right Left Eyeball Normal Pseudoesotropia present Extraocular movements full and free Normal Pseudoesotropia present Extraocular movements full and free Conjunctiva Within Normal limits (No congestion/discharge) Within Normal limits (No congestion/discharge) Cornea Clear, Avascular Clear, Avascular Sclera No nodules/ ectasia No nodules/ ectasia Anterior chamber Van Herrick Grade IV Van Herrick Grade IV Iris Brown and radial No coloboma/synechiae/nodules/vascularization Brown and radial No coloboma/synechiae/nodules/vascularization Pupils NSNR NSNR Lens Clear Clear IOP Normal digital tension NCT – 14 Normal digital tension NCT - 16 Lacrimal drainage Patent Patent Fundus CDR 0.3:1, AV 2:3, Foveal reflex sharp CDR 0.3:1, AV 2:3, Foveal reflex sharp 7

8. DIAGNOSIS 8 Blepharophimosis-Ptosis Epicanthus Inversus syndrome (Moderate BPES Type 2 ) with Bilateral Amblyopia

9. MANAGEMENT 9 Gross congenital anomalies, systemic and syndromic associations, hypertelorism ruled out Our patient was planned for a single stage procedure Bilateral Mustarde’s double Z plasty with Bilateral Fascial Lata sling surgery was done (under General Anesthesia)

10. DISCUSSION 10

11. Blepharophimosis – first described by Komoto in 1921. Dimitry in the same year traced the pedigree of a family of “BPES” KOHN and ROMANO stressed the importance of telecanthus and other associated features – aka Kohn-Romano syndrome MUSTARDE classified eyelid disorders as: Group 1 Group 2 Group 3 Soft tissue involvement Soft tissue + bony abnormalities (mandibulofacial dysostosis) Primarily Bony ( Apert & Crouzon’s) + soft tissue involvement FOXL2 gene mutation ( chromosome 3q23 ) 11 Expressed in developing eyelids and adult ovaries

12. 12 - AD - 100% penetrance - Male to male transmission - Infertile females - AD - 96.5% penetrance - M=F transmission - Lateral ectropion Type 2 with associated Hypertelorism BPES with Lateral ectropion

13. 13 MILD MODERATE SEVERE 1.6 (35/22) in this case

14. 14

15. 15 Increased bony inter orbital distance(BIOD) Measured as the shortest distance between the two media l orbital walls on axial scans. The normal value is 16 mm at birth. In adults it increases to 25 mm for females and 28 mm for males . HYPERTELORISM Illusory Hypertelorism False impression of Hypertelorism seen in: Flat nasal bridge Epicanthal folds, Exotropia, Widely spaced eyebrows, Narrow palpebral fissures

16. 16 FARKAS CANTHAL INDEX - Inner canthal distance/Outer canthal distance X 100 - Less accurate than bony inter-orbital distance (BOID) - Useful when only clinical photographs present (independent of size) - Values to be compared with respective racial norms - 38 = Upper normal limit 38 – 42 = Europyia > 42 = Hypertelorism

17. 17 CLINICAL FEATURES TETRAD of B lepharophimosis ( HPFL) P tosis (Hypoplastic tarsus with absent lid crease) E picanthus inversus Telecanthus

18. 18 LID Lateral ectropion S-shaped Upper Lid Trichiasis LACRIMAL Lateral displacement/Posterior ectopia of lower punctum Medial displacement/ Stenosis of upper punctum Elongation of canaliculi Punctal reduplication NLD anomalies OCULAR Nystagmus Microphthalmos Microcornea Strabismus Iridofundal colobomas

19. 19

20. 20 SYNDROMIC ASSOCIATIONS NOONAN’S SYNDROME WILLIAM’S SYNDROME

21. 21 Marden-Walker syndrome Schwartz- Jampel syndrome Waardenberg syndrome Edward’s syndrome BMRS (Blepharophimosis – Mental Retardation syndrome)

22. 22 Ohdo syndrome Say-Barber- Biesecker -Young–Simpson variant of Ohdo Cerebro -oculo-facial-digital syndrome Dubowitz syndrome Toriello – Carey syndrome Campomelic dysplasia Smith-Lemli-Opitz syndrome

23. 23 MANAGEMENT Genetic evaluation and counselling is essential Rule out syndromic associations, systemic involvement and gross congenital anomalies Type 1 – female infertility – complete gynecological and endocrine workup – need for HRT Family history crucial (25% - no known association) Early intervention – amblyopia Staged correction : Most Popular Stage 1 (correction of epicanthus and telecanthus) followed by Stage 2 (correction of ptosis), 6mo-1year later

24. 24 TECHNIQUES STAGE 1 (Correction of Epicanthus and Telecanthus) Soft tissue element Surgery Skin Mustarde’s double Z plasty (MC) Kohn’s C-U Plasty Verwey’s Y-V plasty Spaeth’s Double Z plasty Roveda technique Soft tissue Excision Medial Canthal tendon MCT Plication (Bunnell’s technique) MCT Resection Trans-nasal wiring

25. 25 = 35mm = 50mm = 77mm Difference between calculated and measured IPD in our case Calculated : 77-35/2 + 35 = 56 mm Measured : 50 mm In telecanthus, calculated = measured IPD Desired ICD in our case = 25mm (ICD one-half of IPD) Difference = 10mm (35-25mm)

26. 26 MUSTARDE’S DOUBLE Z PLASTY aka Running/ Flying man/ Four flap technique B C D P1 – Intended site of the new canthus (in our case 5mm) P2 – skin drawn towards nose obliterating the epicanthal fold BC = DC = 2mm less than 5mm = 3mm at 60 degree Equal length lines drawn 45 degree angle and paramarginal lines marked Flaps undermined MCT divided and sutured to the periosteum Resuturing (A) (B) (C) (D) E F

27. 27 Kohn’s C-U Plasty Five-flap technique V-Y Plasty Roveda technique

28. 28 STAGE 2 Correction of ptosis via frontalis suspension procedures Autogenous Fascia Lata Silicon sling 2) Supramaximal LPS resection if demonstrable LPS

29. 29 SINGLE STAGE PROCEDURE Advantages Reduced hospitalization time Risk and expenses of multiple surgeries reduced Low attrition rate Comparable surgical and cosmetic results

30. 30 B. Disadvantages Excessive traction in different directions Poor elevation with loosening of medial canthopexy Lack of large, multi-center trials on the surgical, cosmetic and functional outcomes of a single-stage procedure

31. 31 CONCLUSION Timing is controversial Early enough to prevent amblyopia and late enough for correct ptosis measurements - BALANCE BETWEEN TWO Patients with severe ptosi s should be corrected before 3 years (high risk of amblyopia) and all other patients before 5 years of age Early surgical intervention when severe ptosis with high risk of amblyopia Less than 2mm IPFH (Inter-palpebral fissure height) = Staged procedure preferred

32. 32 THANK YOU