Long case presentationChairman:

Professor Shakwat Ara ShakoorNIO&H.

Moderator:Dr. Zahidul Ahsan Menon

Assistant professor, NIO&H.

Presenter:Maj. (Dr.) A.K.M. Rashed-Ul-Hasan

FCPS Part- 2(Student), NIO&H.

Particulars of the patient

1. Name Mr. Hridoy2. Father’s name Shakwat hossain3. Age 20 yrs4. Gender Male5. Present address Joyram pur,

Chuadanga sadar, Chuadanga.

6. Permanent address

-Do-

7 .Occupation Student8. Date of Examination

01 august 2016

Chief complaint

Dimness of vision in left eyes for

nine years

History of Present ocular illness

Patient states that he has been suffering from dimness of vision in left eyes for nine years which was gradually worsening day by day but was not associated with pain, redness, watering, photophobia or haloes around light. He has no complaints of hearing difficulty.

Patient has history of trauma over left orbital area 09 years back by bamboo stick. With these problems he visited local ophthalmologist and was referred to NIO&H for better management.

Past ocular illness• No history of surgery.• No history of using spectacles.

General medical & surgical history• Nothing conributory.

Personal history• Unmarried. • Non-smoker & non alcoholic.

Family history• No such type of disease in his family.

Ocular examination

1. Visual acuity

OD OS

Unaided - Distant

6/6 6/60

Near N-6 Unable to seeWith PH - No

improvementWith aid - No

improvement2. Color vision

Trichromatic Trichromatic

3. Field of vision(confrontation )

Normal Normal

OD OS

4. Hirschberg’s reflex

central central

5. Pupillary reaction

Brisk Brisk

6. Ocular motility

Full in all the gazes

Full in all the gazes

Slit lamp examination

OD OS1. Eye lid & eye lashes

Normal Normal2. Conjuncti

va3. Cornea 4. Anterior

chamberNormal in

depthShallow

infero-nasally Deep

Supero-temporally

5. Iris Normal Iridodonesis

Cont…6. Pupil 3 mm,

briskly reacting

3 mm, briskly

reacting7. Crystallin

e LensNormal Subluxation

infero-nasally PhacodonesisLental opacity

8. IOP (GAT) 14 mm of Hg 16 mm of Hg

9. Gonioscopy

CBCB

CB

CB CB CB

CB

CB

Infero-nasal subluxation

Examination of the posterior segment

OD OS

1. Media Clear Clear

2. Optic disc

NormalC:D- 0.3

Normal C:D- 0.3

3.Vascular arcades

Normally arranged

Normally arranged

4. Peripheral retina

Normal White crescentic streak along the infero-temporal vascular arcade & “Y” shaped white streak just below the macula with some pigmentary change in periphery

5. Macula F. Reflex present

F. Reflex present

Systemic examination

Musculoskeletal features Tall & thin stature Disproportionately long limbs.

Arm span > height : 177.5 cm > 172.5 cm

High- arched palate Chest appearance- normal.

Joint laxityThumb sign ( steinberg’s sign) :

+veWrist sign ( walker-murdoch sign) :

+ve Feet : flat Hernial orifices are intact

Arm Span > Height

High arched palate

Steinberg’s sign Walker-Murdoch sign

Arachnodactyly Joint flexity

Cardio-vascular system Pulse : 72/min. BP: 110/70 mmHg S1 & S2 - Audible Murmur – absent Apex beat – palpable in left 5th intercostal space

Respiratory system Genito-urinary system Nervous system Gastro-intestinal system The skin and nails

No Abnormality Detected

Salient feature

Mr. Hridoy , 20 years of age, from Chuadanga, with the complaints of dimness of vision in left eye for nine years which was worsening day by day but was not associated with pain, redness, watering, photophobia or haloes around light or deafness. Patient has history of trauma over left orbital area 09 years back by bamboo stick. No h/o surgery or spectacle use.

Cont…

O/E: VA in RE 6/6 and in LE 6/60. No improvement of vision with pinhole or refraction in L/E. Pupillary reaction to light is brisk in B/E.

On SLE: A/C is shallow infero-nasally & deep supero-temporally with iridodonesis, infero-nasally subluxated crystalline lens, phacodonesis present in L/E.

On fundoscopy :

Media clear in B/E with normal right eye

In left eye white crescentic streak along the infero-temporal vascular arcade & “Y” shaped white streak just below the macula with few pigmentary changes in periphery.

Cont…On Systemic examination:

Extremities are long, arm span (177.5 cm) > height (172.5cm),

High arched palate. Thumb sign ( Steinberg’s sign) &

Wrist sign ( walker-Murdoch sign) : +ve Flat feet

Provisional Diagnosis

Marfan syndrome

Differential Diagnosis• Homocystinuria• Weill-Marchesani syndrome

Investigations1. ECG : Bradycardia with 10 heart block

2. Urine for Sodium Nitroprusside

3. Blood for homocystine level

4. B- scan of orbit

Confirmatory diagnosis

Marfan syndrome with Subluxated lens & choroidal

rupture ( left eye)

Treatment

Pars plana lensectomy with vitrectomy and scleral fixation of IOL.

Thank you

Cyanide Na-Nitropruside urine test

4 drops of 5% Na-Nitropruside +

acidic urine +

2 ml Na-cyanide

Deep red colour(homocysteinuria)