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CASE PRESENTATION : OPTIC DISC MELANOCYTOMA
Dr. Arup Krishna Choudhury
FCPS, DO, MBBS
Vitreo-Retina Fellow ( IIEI&H)
PATIENT PARTICULARS
• Name: Y
• Age: 18 years
• Sex: Male
• Occupation: Student
• Address : Mirpur, Dhaka
CHIEF COMPLAINTS
• Blurring of vision in right eye for 7 days
• Seeing of black spot in right eye for same duration
HISTORY OF PRESENT ILLNESS
• According to patients statement he noticed blurring of vision
and floaters in his right eye for 7 days. Onset was sudden,
progressive in nature and not associated with any pain or
redness
• No history of trauma, systemic illness and drugs
GENERAL EXAMINATION
• Appearance: Ill looking
• Body built: Average
• Pulse: 74/min
• BP: 120/70 mm of Hg
• Respiratory rate: 14/min
• Temperature: 97⁰F
• Anaemia: Absent
• Jaundice: Absent
• Cyanosis: Absent
• Oedema: Absent
SYSTEMIC EXAMINATION
Respiratory System: NAD
CVS: NAD
Nervous System: NAD
OCULAR EXAMINATION
VA RE LE
Unaided 6/18P 6/6P
Aided NI (-1.0/-0.50/180⁰) 6/6 (-0.50)
Near N10 N6
OCULAR EXAMINATION
RE LE
Eye lid Normal Normal
Conjunctiva Normal Normal
Cornea Clear Clear
A/C Normal Normal
Pupil RRR RRR
Lens Clear Clear
Anterior Vitreous Cells Normal
IOP 12 mm of Hg 12 mm of Hg
FUNDUS EXAMINATION
RE LE
Media Clear Clear
Optic disc Pigmented dark
elevated lesion over
the disc
Size , Shape & Color
normal. CD – 04 : 1
Macula Exudates
resembling Star
NAD
DIAGNOSIS
Optic Disc Melanocytoma with macular oedema of Right Eye
DIFFERENTIAL DIAGNOSIS
Choroidal Nevus
Choroidal Melanoma
INVESTIGATIONS
Colour Fundus Photography
OCT Angiogram
B-Scan
COLOUR FUNDUS PHOTOGRAPHY
OCT-A
B- SCAN
TREATMENT
Tab. Prednisolone 20 mg
Tab. Esomeprazole 20 mg
CFP After 1 month
of treatment
VA: 6/6P
OCT macula after
treatment
DISCUSSION
KEY FACTS :
• Rare unilateral heavily pigmented hamartoma,
seen most frequently at the optic nerve head
but may involve the adjacent retina and
choroid
• Benign tumor, very rarely malignant ( 1-2%)
• Congenital and non-hereditary lesion
• No sexual predilection
HISTOPATHOLOGY :
• Histopathologically composed of highly
pigmented round cells with cytoplasmic
melanosomes
• Cells are of low nuclear-to-cytoplasmic
ratio
DIAGNOSIS :
SYMPTOMS :
• Usually asymptomatic and stable
• However, visual symptoms are associated with exudation
with foveal involvement or other complications
CLINICAL FINDINGS :
• Dark brown or black, flat or slightly elevated lesion with
feathery edges
• RAPD may be present, even if VA is good
INVESTIGATIONS :
COLOUR FUNDUS PHOTOGRAPHY : Documentation of lesion
to monitor for growth
FLUORESCEIN ANGIOGRAPHY : Hypofluorescent , which
differentiates melanocytoma from malignant melanoma
B-SCAN : A dome-shaped appearance is a frequent feature in
melanocytoma, and its high internal echogenicity indicates a benign lesion
OPTICAL COHERENCE TOMOGRAPHY (OCT) : Nodular elevation with dense
posterior shadowing
OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY (OCT-A) :
• To visualize capillaries on the tumor surface
• To determine the tumor's depth
• Quantification of the microvascular flow rate
• Identification of progression
VISUAL FIELD :
To evaluate for defects secondary to compression of optic disc
SYSTEMIC ASSOCIATIONS :
• Usually isolated condition
• But some studies suggest association with
neurofibromatosis type 2, basal cell carcinoma,
vitiligo & hypertension
COMPLICATIONS :
• Malignant transformation
• Spontaneous necrosis
• Optic nerve compression
• Retinal vein obstruction
• Intraretinal edema and subretinal fluid
• Yellow intraretinal exudation
• Focal hemorrhage and vitreous seeds
TREATMENT :
• Observation
• Clinical and imaging follow-up should be
performed annually
PROGNOSIS :
Vast majority of cases remains stable and do not lead to visual
impairment
TAKE HOME MESSAGE
• Optic disk melanocytoma is a benign neoplasm
• Seldom exhibits malignant transformation
• Nevertheless, it can show growth and several
complications
• Annual follow up with CFP & OCT should be
considered
REFERENCES
1. Kanski's clinical ophthalmology : a systematic approach. [Brad Bowling; Jack
J Kanski]
2. American Academy of Ophthalmology
3. Rapid Diagnosis in Ophthalmology Series: Retina
4. EyeWiki
THANK YOU

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Optic disc melanocytoma

  • 1. CASE PRESENTATION : OPTIC DISC MELANOCYTOMA Dr. Arup Krishna Choudhury FCPS, DO, MBBS Vitreo-Retina Fellow ( IIEI&H)
  • 2. PATIENT PARTICULARS • Name: Y • Age: 18 years • Sex: Male • Occupation: Student • Address : Mirpur, Dhaka
  • 3. CHIEF COMPLAINTS • Blurring of vision in right eye for 7 days • Seeing of black spot in right eye for same duration
  • 4. HISTORY OF PRESENT ILLNESS • According to patients statement he noticed blurring of vision and floaters in his right eye for 7 days. Onset was sudden, progressive in nature and not associated with any pain or redness • No history of trauma, systemic illness and drugs
  • 5. GENERAL EXAMINATION • Appearance: Ill looking • Body built: Average • Pulse: 74/min • BP: 120/70 mm of Hg • Respiratory rate: 14/min • Temperature: 97⁰F • Anaemia: Absent • Jaundice: Absent • Cyanosis: Absent • Oedema: Absent
  • 6. SYSTEMIC EXAMINATION Respiratory System: NAD CVS: NAD Nervous System: NAD
  • 7. OCULAR EXAMINATION VA RE LE Unaided 6/18P 6/6P Aided NI (-1.0/-0.50/180⁰) 6/6 (-0.50) Near N10 N6
  • 8. OCULAR EXAMINATION RE LE Eye lid Normal Normal Conjunctiva Normal Normal Cornea Clear Clear A/C Normal Normal Pupil RRR RRR Lens Clear Clear Anterior Vitreous Cells Normal IOP 12 mm of Hg 12 mm of Hg
  • 9. FUNDUS EXAMINATION RE LE Media Clear Clear Optic disc Pigmented dark elevated lesion over the disc Size , Shape & Color normal. CD – 04 : 1 Macula Exudates resembling Star NAD
  • 10. DIAGNOSIS Optic Disc Melanocytoma with macular oedema of Right Eye
  • 14. OCT-A
  • 16. TREATMENT Tab. Prednisolone 20 mg Tab. Esomeprazole 20 mg
  • 17. CFP After 1 month of treatment VA: 6/6P
  • 19. DISCUSSION KEY FACTS : • Rare unilateral heavily pigmented hamartoma, seen most frequently at the optic nerve head but may involve the adjacent retina and choroid • Benign tumor, very rarely malignant ( 1-2%) • Congenital and non-hereditary lesion • No sexual predilection
  • 20. HISTOPATHOLOGY : • Histopathologically composed of highly pigmented round cells with cytoplasmic melanosomes • Cells are of low nuclear-to-cytoplasmic ratio
  • 21. DIAGNOSIS : SYMPTOMS : • Usually asymptomatic and stable • However, visual symptoms are associated with exudation with foveal involvement or other complications CLINICAL FINDINGS : • Dark brown or black, flat or slightly elevated lesion with feathery edges • RAPD may be present, even if VA is good
  • 22. INVESTIGATIONS : COLOUR FUNDUS PHOTOGRAPHY : Documentation of lesion to monitor for growth FLUORESCEIN ANGIOGRAPHY : Hypofluorescent , which differentiates melanocytoma from malignant melanoma
  • 23. B-SCAN : A dome-shaped appearance is a frequent feature in melanocytoma, and its high internal echogenicity indicates a benign lesion OPTICAL COHERENCE TOMOGRAPHY (OCT) : Nodular elevation with dense posterior shadowing
  • 24. OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY (OCT-A) : • To visualize capillaries on the tumor surface • To determine the tumor's depth • Quantification of the microvascular flow rate • Identification of progression VISUAL FIELD : To evaluate for defects secondary to compression of optic disc
  • 25. SYSTEMIC ASSOCIATIONS : • Usually isolated condition • But some studies suggest association with neurofibromatosis type 2, basal cell carcinoma, vitiligo & hypertension
  • 26. COMPLICATIONS : • Malignant transformation • Spontaneous necrosis • Optic nerve compression • Retinal vein obstruction • Intraretinal edema and subretinal fluid • Yellow intraretinal exudation • Focal hemorrhage and vitreous seeds
  • 27. TREATMENT : • Observation • Clinical and imaging follow-up should be performed annually PROGNOSIS : Vast majority of cases remains stable and do not lead to visual impairment
  • 28. TAKE HOME MESSAGE • Optic disk melanocytoma is a benign neoplasm • Seldom exhibits malignant transformation • Nevertheless, it can show growth and several complications • Annual follow up with CFP & OCT should be considered
  • 29. REFERENCES 1. Kanski's clinical ophthalmology : a systematic approach. [Brad Bowling; Jack J Kanski] 2. American Academy of Ophthalmology 3. Rapid Diagnosis in Ophthalmology Series: Retina 4. EyeWiki